Variant report

Variant	rs327205
Chromosome Location	chr1:120559942-120559943
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
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];0.96[YRI][hapmap]
rs10923931	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][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];0.96[YRI][hapmap]
rs2453040	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap]
rs2453058	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][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];0.96[YRI][hapmap]
rs2493392	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs2493394	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap]
rs2641317	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs2641346	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap]
rs2641352	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs2793829	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs2793831	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs2843024	1.00[JPT][hapmap]
rs2934381	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs2934387	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs327194	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs327206	1.00[CEU][hapmap]
rs3897478	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs3911328	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6668119	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap]
rs699779	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs7515431	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs7534585	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs7534586	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs835575	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs835576	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs9662844	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120533400-120561400	Weak transcription	HMEC	breast
2	chr1:120533400-120563400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr1:120533400-120575000	Weak transcription	NHEK	skin
4	chr1:120533400-120578200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:120544000-120563800	Weak transcription	Psoas Muscle	Psoas
6	chr1:120544400-120575000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:120545800-120578200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:120548200-120579800	Weak transcription	Spleen	Spleen
9	chr1:120555800-120560200	Enhancers	Fetal Lung	lung
10	chr1:120556000-120573800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:120556800-120560000	Enhancers	Primary B cells from peripheral blood	blood
12	chr1:120556800-120560400	Enhancers	Fetal Heart	heart
13	chr1:120557400-120560000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:120557400-120560000	Enhancers	NH-A	brain
15	chr1:120557400-120560200	Enhancers	Primary B cells from cord blood	blood
16	chr1:120557600-120561600	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr1:120557800-120560000	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr1:120557800-120560000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:120557800-120564000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:120558000-120564000	Enhancers	Osteobl	bone
21	chr1:120558200-120567400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr1:120558400-120560200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr1:120558400-120560200	Enhancers	Brain Anterior Caudate	brain
24	chr1:120558400-120560400	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr1:120558400-120560800	Weak transcription	Brain Angular Gyrus	brain
26	chr1:120558400-120561200	Weak transcription	Brain Hippocampus Middle	brain
27	chr1:120558400-120561200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr1:120558400-120561200	Weak transcription	HSMMtube	muscle
29	chr1:120558400-120561600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:120558400-120563400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr1:120558400-120563800	Weak transcription	Right Atrium	heart
32	chr1:120558400-120564000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:120558400-120564000	Enhancers	Adipose Nuclei	Adipose
34	chr1:120558400-120566800	Weak transcription	Aorta	Aorta
35	chr1:120558400-120566800	Weak transcription	Fetal Intestine Large	intestine
36	chr1:120558400-120566800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr1:120558400-120568800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:120558400-120570000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:120558400-120570800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:120558400-120572000	Weak transcription	Fetal Thymus	thymus
41	chr1:120558400-120574000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:120558400-120578600	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr1:120558600-120560200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:120558600-120560600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr1:120558600-120560800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr1:120558600-120560800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:120558600-120560800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr1:120558600-120561200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:120558600-120561400	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr1:120558600-120561400	Enhancers	Primary neutrophils fromperipheralblood	blood

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