Variant report

Variant	rs184576
Chromosome Location	chr3:119822006-119822007
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	chr3:119815352..119817379-chr3:119819963..119822983,3	K562	blood:
2	chr3:119821907..119823644-chr3:119823952..119825659,2	K562	blood:

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10049256	1.00[CEU][hapmap]
rs10934512	1.00[CEU][hapmap]
rs1154596	0.87[CEU][hapmap];0.85[EUR][1000 genomes]
rs1154597	0.87[CEU][hapmap];0.85[CHD][hapmap];0.92[GIH][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes]
rs12152218	1.00[CEU][hapmap]
rs13312998	0.87[CEU][hapmap];0.85[CHD][hapmap];0.92[GIH][hapmap];0.90[TSI][hapmap]
rs13314595	0.85[CHD][hapmap]
rs1488764	1.00[CEU][hapmap]
rs1492271	0.87[CEU][hapmap]
rs16830683	0.87[CEU][hapmap];0.85[CHD][hapmap];0.92[GIH][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes]
rs16830689	0.82[ASN][1000 genomes]
rs182839	0.87[CEU][hapmap];0.85[CHD][hapmap];0.92[GIH][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes]
rs1907681	1.00[CEU][hapmap]
rs2035671	1.00[CEU][hapmap]
rs2035674	1.00[CEU][hapmap]
rs2130000	1.00[CEU][hapmap]
rs2319541	1.00[CEU][hapmap]
rs2319543	1.00[CEU][hapmap]
rs2874022	1.00[CEU][hapmap]
rs2874023	1.00[CEU][hapmap]
rs334534	0.87[CEU][hapmap];0.85[CHD][hapmap];0.92[GIH][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes]
rs334535	0.85[CHD][hapmap];0.82[ASN][1000 genomes]
rs334536	0.85[CHD][hapmap]
rs334539	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs334540	0.90[EUR][1000 genomes]
rs334545	1.00[CEU][hapmap];0.80[GIH][hapmap];0.88[EUR][1000 genomes]
rs334549	1.00[CEU][hapmap]
rs334551	0.85[EUR][1000 genomes]
rs334552	0.85[EUR][1000 genomes]
rs334554	0.85[EUR][1000 genomes]
rs334559	0.85[CHD][hapmap];0.82[ASN][1000 genomes]
rs334561	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs334566	0.85[CHD][hapmap]
rs3853592	0.81[EUR][1000 genomes]
rs4072520	0.85[CHD][hapmap]
rs4488869	1.00[CEU][hapmap]
rs4676822	1.00[CEU][hapmap]
rs60272712	0.85[EUR][1000 genomes]
rs6438554	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs6438555	0.85[CHD][hapmap]
rs6438558	1.00[CEU][hapmap]
rs6438559	1.00[CEU][hapmap]
rs6438564	1.00[CEU][hapmap]
rs6438567	1.00[CEU][hapmap]
rs6762640	0.81[EUR][1000 genomes]
rs6764549	1.00[CEU][hapmap]
rs6769435	0.85[CHD][hapmap]
rs6769988	1.00[CEU][hapmap]
rs6770314	0.85[CHD][hapmap]
rs6771023	0.85[CHD][hapmap]
rs6776122	1.00[CEU][hapmap]
rs6779828	0.82[ASN][1000 genomes]
rs6781470	1.00[CEU][hapmap]
rs6784239	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs6785050	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs6794478	1.00[CEU][hapmap]
rs6797689	0.87[CEU][hapmap];0.85[CHD][hapmap];0.92[GIH][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes]
rs6802301	0.82[ASN][1000 genomes]
rs6803611	0.87[CEU][hapmap]
rs6805931	0.85[EUR][1000 genomes]
rs6806460	0.87[ASN][1000 genomes]
rs6807868	0.87[CEU][hapmap];0.85[CHD][hapmap];0.92[GIH][hapmap];0.90[TSI][hapmap]
rs7620750	0.85[CHD][hapmap]
rs7628426	0.85[EUR][1000 genomes]
rs7635604	0.83[EUR][1000 genomes]
rs7642171	0.86[CEU][hapmap]
rs7644268	1.00[CEU][hapmap]
rs7650554	0.87[CEU][hapmap];0.85[CHD][hapmap];0.92[GIH][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes]
rs7652172	0.85[CHD][hapmap];0.82[ASN][1000 genomes]
rs7653263	1.00[CEU][hapmap]
rs7653396	1.00[CEU][hapmap]
rs787211	0.87[CEU][hapmap]
rs902790	1.00[CEU][hapmap]
rs902791	1.00[CEU][hapmap]
rs902794	1.00[CEU][hapmap]
rs902795	1.00[CEU][hapmap]
rs923380	1.00[CEU][hapmap]
rs923726	1.00[CEU][hapmap]
rs923727	1.00[CEU][hapmap]
rs923728	1.00[CEU][hapmap]
rs9289143	1.00[CEU][hapmap]
rs968824	0.85[CHD][hapmap]
rs979682	1.00[CEU][hapmap]
rs9813834	1.00[CEU][hapmap]
rs9841122	1.00[CEU][hapmap]
rs9842302	1.00[CEU][hapmap]
rs9851174	0.85[CHD][hapmap];0.82[ASN][1000 genomes]
rs9853082	1.00[CEU][hapmap]
rs9858566	1.00[CEU][hapmap]
rs9859778	0.82[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	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001476	chr3:119575386-120075417	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv536704	chr3:119575386-120075417	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv3964	chr3:119786623-119831698	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
5	nsv829697	chr3:119802856-119918435	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119814600-119830600	Weak transcription	Gastric	stomach
2	chr3:119815000-119829200	Weak transcription	Ovary	ovary
3	chr3:119815400-119828000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr3:119815400-119828200	Weak transcription	Aorta	Aorta
5	chr3:119815400-119828800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:119815400-119830000	Weak transcription	Fetal Lung	lung
7	chr3:119815600-119826000	Weak transcription	Primary B cells from cord blood	blood
8	chr3:119815800-119829000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr3:119816000-119822200	Weak transcription	Right Ventricle	heart
10	chr3:119816000-119822400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr3:119816000-119827400	Weak transcription	Thymus	Thymus
12	chr3:119816000-119828600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr3:119816000-119829000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr3:119816200-119823200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr3:119816200-119831000	Weak transcription	Fetal Muscle Leg	muscle
16	chr3:119816200-119832600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr3:119816400-119822200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:119816400-119823200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr3:119816400-119826600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:119816400-119826600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:119816400-119831400	Weak transcription	Brain Substantia Nigra	brain
22	chr3:119817000-119822200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:119817200-119823400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr3:119817200-119823800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr3:119817600-119824400	Weak transcription	Placenta	Placenta
26	chr3:119818000-119831800	Weak transcription	HSMM	muscle
27	chr3:119818200-119824400	Weak transcription	Fetal Intestine Large	intestine
28	chr3:119818200-119828600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr3:119818400-119822200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr3:119818600-119831800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr3:119819000-119825000	Weak transcription	HepG2	liver
32	chr3:119819000-119828600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr3:119819200-119823000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr3:119819200-119823400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr3:119819400-119822400	Enhancers	HMEC	breast
36	chr3:119819600-119822200	Enhancers	Fetal Brain Female	brain
37	chr3:119819600-119822600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr3:119819800-119822200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr3:119819800-119822400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr3:119819800-119827400	Weak transcription	Fetal Thymus	thymus
41	chr3:119819800-119832400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr3:119820000-119822200	Weak transcription	Primary T cells from cord blood	blood
43	chr3:119820000-119832200	Weak transcription	HSMMtube	muscle
44	chr3:119820200-119828200	Weak transcription	NHDF-Ad	bronchial
45	chr3:119820200-119832000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr3:119820400-119822400	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr3:119820600-119827400	Weak transcription	Fetal Intestine Small	intestine
48	chr3:119820600-119829400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr3:119820800-119822400	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr3:119820800-119822400	Enhancers	Fetal Heart	heart

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