Variant report

Variant	rs4839292
Chromosome Location	chr1:113680402-113680403
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:113680262..113682777-chr1:113931475..113934296,2	K562	blood:
2	chr1:113679152..113685949-chr1:113930075..113933879,13	MCF-7	breast:
3	chr1:113679582..113681809-chr1:113760722..113762364,2	MCF-7	breast:
4	chr1:113680385..113687065-chr1:113687067..113690757,6	K562	blood:

Variant related genes	Relation type
ENSG00000081026	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11102584	1.00[ASN][1000 genomes]
rs11102586	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11102588	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11102592	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12031658	1.00[CHB][hapmap]
rs12117273	0.86[EUR][1000 genomes]
rs12118532	0.86[EUR][1000 genomes]
rs12120738	0.86[EUR][1000 genomes]
rs12123072	0.86[EUR][1000 genomes]
rs12123519	0.86[EUR][1000 genomes]
rs12123601	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs12128658	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12129858	1.00[CEU][hapmap]
rs12133057	0.86[EUR][1000 genomes]
rs12136941	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs12137299	0.86[EUR][1000 genomes]
rs12141415	0.86[EUR][1000 genomes]
rs12143171	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs12143341	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs12145713	1.00[TSI][hapmap]
rs1216767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1216769	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1216793	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1216798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1216802	1.00[ASN][1000 genomes]
rs1216805	1.00[ASN][1000 genomes]
rs1216807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1216808	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1216810	1.00[ASN][1000 genomes]
rs1216812	1.00[ASN][1000 genomes]
rs1216813	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs12184272	0.86[EUR][1000 genomes]
rs12184320	0.86[EUR][1000 genomes]
rs12744661	0.86[EUR][1000 genomes]
rs1310142	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1618794	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17031006	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17031214	1.00[MEX][hapmap]
rs1728227	1.00[ASN][1000 genomes]
rs1728229	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1766864	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1766865	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs1778016	1.00[ASN][1000 genomes]
rs1778017	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1778019	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1778023	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs41296184	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4839291	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6670587	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs6695183	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74111210	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74111213	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7531847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7538813	1.00[EUR][1000 genomes]
rs7545814	1.00[CEU][hapmap]
rs946215	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
5	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
7	nsv999915	chr1:113360145-113684833	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats 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	69 gene(s)	inside rSNPs	diseases
8	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
9	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
10	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113663400-113683400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:113667200-113682400	Weak transcription	Fetal Brain Male	brain
3	chr1:113667200-113683400	Weak transcription	Esophagus	oesophagus
4	chr1:113667200-113683400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr1:113667200-113683400	Weak transcription	A549	lung
6	chr1:113667400-113685200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:113667600-113683600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:113667800-113683400	Weak transcription	Gastric	stomach
9	chr1:113667800-113683600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:113668200-113683200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:113668200-113683600	Weak transcription	Small Intestine	intestine
12	chr1:113669600-113683000	Weak transcription	Stomach Mucosa	stomach
13	chr1:113669600-113683400	Weak transcription	Brain Angular Gyrus	brain
14	chr1:113669600-113683400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr1:113669600-113683400	Weak transcription	Fetal Lung	lung
16	chr1:113669600-113683400	Weak transcription	Fetal Muscle Leg	muscle
17	chr1:113669600-113683400	Weak transcription	Lung	lung
18	chr1:113669600-113683400	Weak transcription	NHEK	skin
19	chr1:113669600-113683600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr1:113669600-113685400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr1:113669600-113689400	Weak transcription	Thymus	Thymus
22	chr1:113669800-113683000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:113669800-113683000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr1:113669800-113683400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr1:113669800-113683400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr1:113669800-113683400	Weak transcription	Hela-S3	cervix
27	chr1:113669800-113683400	Weak transcription	NH-A	brain
28	chr1:113669800-113683600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr1:113669800-113683800	Weak transcription	Fetal Kidney	kidney
30	chr1:113669800-113683800	Weak transcription	HSMMtube	muscle
31	chr1:113669800-113685000	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr1:113669800-113685000	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr1:113669800-113690000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:113670000-113683400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:113670000-113683400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr1:113670000-113685400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:113670200-113683400	Weak transcription	NHLF	lung
38	chr1:113671200-113683000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:113671200-113683000	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr1:113671200-113683400	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr1:113671200-113683400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:113671200-113683400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr1:113671400-113683000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr1:113671400-113683400	Weak transcription	Liver	Liver
45	chr1:113671400-113683400	Weak transcription	Fetal Thymus	thymus
46	chr1:113671400-113683400	Weak transcription	HMEC	breast
47	chr1:113671400-113683400	Weak transcription	HSMM	muscle
48	chr1:113671600-113682800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr1:113671600-113683200	Weak transcription	Primary B cells from peripheral blood	blood
50	chr1:113672400-113683400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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