Variant report

Variant	rs3911328
Chromosome Location	chr1:120599177-120599178
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10127888	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10923931	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1493694	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17024432	1.00[CHB][hapmap]
rs17186372	1.00[JPT][hapmap]
rs17258599	1.00[JPT][hapmap]
rs2027447	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2453040	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2453058	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2493389	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2493391	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2493392	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2493394	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2641317	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2641346	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2641352	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap]
rs2793829	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2793831	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2843024	1.00[JPT][hapmap]
rs2934381	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2934387	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs327194	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs327205	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs327206	1.00[CEU][hapmap]
rs3897478	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6668119	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs699779	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7515431	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs7534585	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7534586	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs835575	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs835576	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9662844	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428201	chr1:120267313-120697156	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2757750	chr1:120267313-121226013	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv2758965	chr1:120267313-121226013	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv1816057	chr1:120469050-120697156	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv1818054	chr1:120469050-120697156	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	esv1844863	chr1:120469050-120697156	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	esv1850218	chr1:120469050-120697156	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv427730	chr1:120469050-120697156	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	esv3324912	chr1:120578662-120609227	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv3413453	chr1:120578662-120612227	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	esv1828223	chr1:120578662-120626764	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	esv1844033	chr1:120578662-120627862	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	esv1832804	chr1:120578662-120628887	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	esv1819028	chr1:120578662-120629769	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	esv1819429	chr1:120578662-120629769	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	esv1827118	chr1:120578662-120629769	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	esv1830410	chr1:120578662-120629769	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	esv1843522	chr1:120578662-120629769	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	esv1846810	chr1:120578662-120629769	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	esv1821788	chr1:120578662-120629826	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	esv1816562	chr1:120578662-120629915	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
22	esv1822603	chr1:120578662-120629915	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
23	esv1845565	chr1:120578662-120629915	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
24	esv1850924	chr1:120578662-120629915	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
25	esv1824430	chr1:120578662-120630688	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
26	nsv10683	chr1:120578662-120630920	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
27	esv11320	chr1:120578662-120631800	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
28	esv1848317	chr1:120578662-120634986	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
29	esv3389755	chr1:120578662-120638427	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
30	esv3424178	chr1:120578662-120639427	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
31	nsv820378	chr1:120578662-120647640	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
32	nsv824331	chr1:120578662-120647640	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
33	esv20760	chr1:120578662-120697078	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
34	esv1825211	chr1:120578662-120697156	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
35	esv1831845	chr1:120578662-120697156	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
36	nsv870165	chr1:120578662-120903623	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
37	nsv872181	chr1:120578662-120908502	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
38	esv1830275	chr1:120578662-121131204	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
39	esv1830418	chr1:120578662-121157625	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
40	esv1801289	chr1:120578662-121164301	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120564000-120610800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr1:120567600-120604200	Weak transcription	Primary T cells from cord blood	blood
3	chr1:120567600-120608600	Weak transcription	Dnd41	blood
4	chr1:120571000-120601600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:120578600-120605800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr1:120578800-120602000	Weak transcription	Esophagus	oesophagus
7	chr1:120580200-120601600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:120580200-120602000	Weak transcription	Fetal Stomach	stomach
9	chr1:120580400-120601200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr1:120584400-120602000	Weak transcription	Left Ventricle	heart
11	chr1:120586800-120603800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:120586800-120604200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr1:120587000-120604200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr1:120587600-120602000	Weak transcription	Fetal Muscle Leg	muscle
15	chr1:120588600-120609600	Weak transcription	Aorta	Aorta
16	chr1:120588600-120610600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:120591000-120609600	Weak transcription	Fetal Brain Female	brain
18	chr1:120592000-120601200	Weak transcription	Adipose Nuclei	Adipose
19	chr1:120592200-120602000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr1:120592200-120605800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:120593800-120602000	Weak transcription	Fetal Intestine Large	intestine
22	chr1:120594200-120601000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:120594200-120601200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr1:120594200-120601800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr1:120594200-120605800	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr1:120594400-120599400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:120594400-120601800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:120594400-120602000	Weak transcription	Ovary	ovary
29	chr1:120594400-120604200	Weak transcription	Psoas Muscle	Psoas
30	chr1:120594400-120609800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:120595000-120610800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr1:120595200-120600200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:120595200-120602000	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr1:120595200-120602000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr1:120595200-120604000	Weak transcription	Stomach Mucosa	stomach
36	chr1:120595200-120604200	Weak transcription	Right Atrium	heart
37	chr1:120595200-120605000	Weak transcription	Primary B cells from peripheral blood	blood
38	chr1:120595200-120605800	Weak transcription	Primary B cells from cord blood	blood
39	chr1:120595200-120608800	Weak transcription	Fetal Lung	lung
40	chr1:120595200-120610600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr1:120595200-120610600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr1:120595200-120611000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr1:120595400-120602000	Weak transcription	HUVEC	blood vessel
44	chr1:120596200-120602000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr1:120596400-120601000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr1:120596400-120602000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr1:120597000-120602000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:120597000-120602000	Weak transcription	Rectal Smooth Muscle	rectum
49	chr1:120597200-120600400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:120597200-120600400	Weak transcription	HSMMtube	muscle

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