Variant report

Variant	rs13430716
Chromosome Location	chr2:37136517-37136518
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37135486..37138382-chr2:37141654..37143991,3	K562	blood:
2	chr2:37129384..37131644-chr2:37135815..37138378,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115808	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10084315	1.00[CEU][hapmap]
rs10153588	1.00[MEX][hapmap]
rs10166375	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10174832	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10177789	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10177905	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs10186611	1.00[CEU][hapmap]
rs10187519	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10187755	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10201668	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10209892	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10210881	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12464180	1.00[CEU][hapmap]
rs12466249	1.00[CEU][hapmap]
rs12474977	1.00[CEU][hapmap]
rs13385893	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13394344	0.84[AMR][1000 genomes]
rs13397869	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13398577	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13398883	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13399537	1.00[CEU][hapmap]
rs13408934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13411242	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs13419229	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13422660	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs13425123	1.00[CEU][hapmap]
rs13429524	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2372811	1.00[ASN][1000 genomes]
rs2540923	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs2540994	1.00[MEX][hapmap]
rs2691111	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs28386843	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28593131	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28701005	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4670606	1.00[MEX][hapmap]
rs56808546	1.00[EUR][1000 genomes]
rs6716696	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6743906	1.00[MEX][hapmap]
rs72868355	0.86[EUR][1000 genomes]
rs7424163	1.00[MEX][hapmap]
rs7564242	1.00[EUR][1000 genomes]
rs7571203	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised 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	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv456363	chr2:37109281-37235324	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv581470	chr2:37109281-37235324	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37067600-37146200	Weak transcription	Psoas Muscle	Psoas
2	chr2:37075600-37139200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:37077200-37144400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:37077400-37136600	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:37087400-37146200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:37094400-37154200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:37096400-37143800	Weak transcription	Fetal Kidney	kidney
8	chr2:37096800-37154400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr2:37099200-37140200	Weak transcription	Colonic Mucosa	Colon
10	chr2:37103800-37146200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:37105000-37152600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:37105000-37164600	Weak transcription	Lung	lung
13	chr2:37105200-37139200	Weak transcription	Aorta	Aorta
14	chr2:37105200-37141200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:37105200-37144000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr2:37105200-37154400	Weak transcription	Esophagus	oesophagus
17	chr2:37105200-37157800	Weak transcription	Pancreas	Pancrea
18	chr2:37105200-37164600	Weak transcription	Spleen	Spleen
19	chr2:37105800-37146400	Weak transcription	Right Ventricle	heart
20	chr2:37110800-37142800	Weak transcription	Gastric	stomach
21	chr2:37111200-37140600	Weak transcription	Fetal Brain Female	brain
22	chr2:37111600-37139200	Weak transcription	Ovary	ovary
23	chr2:37111800-37138200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:37112000-37138400	Weak transcription	Brain Germinal Matrix	brain
25	chr2:37112400-37145800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:37114000-37145800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr2:37117400-37139400	Weak transcription	Fetal Muscle Trunk	muscle
28	chr2:37117400-37144400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr2:37117600-37139800	Weak transcription	HSMM	muscle
30	chr2:37117600-37153600	Weak transcription	Hela-S3	cervix
31	chr2:37118000-37139200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr2:37118000-37139600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr2:37118000-37139800	Weak transcription	HUVEC	blood vessel
34	chr2:37118000-37140000	Weak transcription	NHEK	skin
35	chr2:37118000-37140200	Weak transcription	HMEC	breast
36	chr2:37118200-37139200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:37118200-37139800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:37119600-37139000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr2:37119600-37139200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr2:37119600-37139200	Weak transcription	Osteobl	bone
41	chr2:37119600-37140000	Weak transcription	GM12878-XiMat	blood
42	chr2:37119800-37142200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr2:37120000-37139200	Weak transcription	Fetal Muscle Leg	muscle
44	chr2:37120000-37139800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:37120000-37153800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr2:37120200-37142600	Weak transcription	K562	blood
47	chr2:37120200-37149200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr2:37120400-37138400	Weak transcription	Left Ventricle	heart
49	chr2:37120600-37168000	Weak transcription	Thymus	Thymus
50	chr2:37120800-37166400	Weak transcription	Placenta	Placenta

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