Variant report

Variant	rs936185
Chromosome Location	chr3:47035625-47035626
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:47035582-47035876	GM12878	blood:	n/a	n/a
2	POLR2A	chr3:47035011-47035875	K562	blood:	n/a	n/a
3	POLR2A	chr3:47034356-47036232	GM12892	blood:	n/a	n/a
4	POLR2A	chr3:47035578-47035630	K562	blood:	n/a	n/a
5	POLR2A	chr3:47035079-47040669	K562	blood:	n/a	n/a
6	POLR2A	chr3:47035320-47036255	K562	blood:	n/a	n/a
7	POLR2A	chr3:47034482-47040584	GM12878	blood:	n/a	n/a
8	POLR2A	chr3:47035568-47036188	HL-60	blood:	n/a	n/a
9	POLR2A	chr3:47034528-47035817	GM12892	blood:	n/a	n/a
10	POLR2A	chr3:47034410-47036031	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:47028266..47031256-chr3:47034300..47036067,3	MCF-7	breast:
2	chr3:47022327..47024798-chr3:47034790..47037154,3	MCF-7	breast:
3	chr3:47029851..47036778-chr3:47036995..47040214,6	MCF-7	breast:

Variant related genes	Relation type
NBEAL2	TF binding region
ENSG00000160799	Chromatin interaction

Extended variants
information (count: 167 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:158)

rs_ID	r²[population]
rs1024036	1.00[EUR][1000 genomes]
rs10461017	1.00[EUR][1000 genomes]
rs10461019	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10865945	1.00[EUR][1000 genomes]
rs11130108	1.00[EUR][1000 genomes]
rs11130109	1.00[EUR][1000 genomes]
rs11706212	1.00[EUR][1000 genomes]
rs11708257	1.00[EUR][1000 genomes]
rs11709693	1.00[EUR][1000 genomes]
rs11709876	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11713537	1.00[EUR][1000 genomes]
rs11922925	1.00[EUR][1000 genomes]
rs11928558	1.00[EUR][1000 genomes]
rs12106916	1.00[AMR][1000 genomes]
rs12330516	1.00[EUR][1000 genomes]
rs12487763	1.00[EUR][1000 genomes]
rs12488371	1.00[EUR][1000 genomes]
rs13062185	1.00[EUR][1000 genomes]
rs13078181	1.00[EUR][1000 genomes]
rs13079416	1.00[EUR][1000 genomes]
rs13082531	1.00[EUR][1000 genomes]
rs13323092	1.00[EUR][1000 genomes]
rs1378818	1.00[EUR][1000 genomes]
rs1463394	1.00[EUR][1000 genomes]
rs1466272	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1466273	1.00[EUR][1000 genomes]
rs1473382	1.00[EUR][1000 genomes]
rs1473384	1.00[EUR][1000 genomes]
rs1473385	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1563431	1.00[EUR][1000 genomes]
rs1563432	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1814564	1.00[EUR][1000 genomes]
rs1869870	1.00[EUR][1000 genomes]
rs1874264	1.00[EUR][1000 genomes]
rs1979736	1.00[EUR][1000 genomes]
rs2124509	1.00[EUR][1000 genomes]
rs2350642	1.00[EUR][1000 genomes]
rs2385863	1.00[EUR][1000 genomes]
rs2385868	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs28735306	1.00[EUR][1000 genomes]
rs34147581	1.00[EUR][1000 genomes]
rs35366910	1.00[EUR][1000 genomes]
rs4018904	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4282092	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4289375	1.00[EUR][1000 genomes]
rs4324490	1.00[EUR][1000 genomes]
rs4373094	1.00[EUR][1000 genomes]
rs4378998	1.00[EUR][1000 genomes]
rs4389512	1.00[EUR][1000 genomes]
rs4450857	1.00[EUR][1000 genomes]
rs4478107	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4522803	1.00[EUR][1000 genomes]
rs4525902	1.00[EUR][1000 genomes]
rs4543047	1.00[EUR][1000 genomes]
rs4682828	1.00[EUR][1000 genomes]
rs4682832	1.00[EUR][1000 genomes]
rs4682833	1.00[EUR][1000 genomes]
rs4682834	1.00[EUR][1000 genomes]
rs4682835	1.00[EUR][1000 genomes]
rs4682836	1.00[EUR][1000 genomes]
rs4682838	1.00[EUR][1000 genomes]
rs4682841	1.00[EUR][1000 genomes]
rs4682843	1.00[EUR][1000 genomes]
rs4682846	1.00[EUR][1000 genomes]
rs4682847	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4683277	1.00[EUR][1000 genomes]
rs4683279	1.00[EUR][1000 genomes]
rs4683282	1.00[TSI][hapmap]
rs4683283	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4683284	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4683285	1.00[EUR][1000 genomes]
rs4683286	1.00[EUR][1000 genomes]
rs4683288	1.00[EUR][1000 genomes]
rs4683289	1.00[EUR][1000 genomes]
rs4683290	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4683291	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4683292	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4683293	1.00[EUR][1000 genomes]
rs4683303	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs61212229	1.00[AMR][1000 genomes]
rs6442041	1.00[EUR][1000 genomes]
rs6442042	1.00[EUR][1000 genomes]
rs6442043	1.00[EUR][1000 genomes]
rs6442044	1.00[EUR][1000 genomes]
rs6442047	1.00[EUR][1000 genomes]
rs6442048	1.00[EUR][1000 genomes]
rs6442062	1.00[EUR][1000 genomes]
rs6442063	1.00[EUR][1000 genomes]
rs6766676	1.00[EUR][1000 genomes]
rs6767868	1.00[EUR][1000 genomes]
rs6768169	1.00[EUR][1000 genomes]
rs6772449	1.00[EUR][1000 genomes]
rs6775797	1.00[EUR][1000 genomes]
rs6778673	1.00[EUR][1000 genomes]
rs6778687	1.00[EUR][1000 genomes]
rs6780994	1.00[EUR][1000 genomes]
rs6785462	1.00[EUR][1000 genomes]
rs6787210	1.00[EUR][1000 genomes]
rs6804732	1.00[EUR][1000 genomes]
rs6806521	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6808052	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6808117	1.00[EUR][1000 genomes]
rs6808629	1.00[EUR][1000 genomes]
rs6809904	1.00[EUR][1000 genomes]
rs72897491	1.00[AMR][1000 genomes]
rs72897492	1.00[AMR][1000 genomes]
rs73831482	1.00[EUR][1000 genomes]
rs73833619	1.00[AMR][1000 genomes]
rs7612392	1.00[AMR][1000 genomes]
rs7615774	1.00[EUR][1000 genomes]
rs7621530	1.00[EUR][1000 genomes]
rs7622597	1.00[AMR][1000 genomes]
rs7624549	1.00[EUR][1000 genomes]
rs7630154	1.00[EUR][1000 genomes]
rs7630904	1.00[EUR][1000 genomes]
rs7633456	1.00[AMR][1000 genomes]
rs7638549	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7639121	1.00[EUR][1000 genomes]
rs7643150	1.00[EUR][1000 genomes]
rs7643868	1.00[EUR][1000 genomes]
rs7644382	1.00[EUR][1000 genomes]
rs7646076	1.00[EUR][1000 genomes]
rs7649413	1.00[EUR][1000 genomes]
rs7649941	1.00[EUR][1000 genomes]
rs7650142	1.00[EUR][1000 genomes]
rs7650376	1.00[AMR][1000 genomes]
rs7652492	1.00[EUR][1000 genomes]
rs924009	1.00[EUR][1000 genomes]
rs936173	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs936174	1.00[AMR][1000 genomes]
rs936176	1.00[AMR][1000 genomes]
rs936177	1.00[EUR][1000 genomes]
rs936178	1.00[EUR][1000 genomes]
rs936179	1.00[EUR][1000 genomes]
rs936180	1.00[EUR][1000 genomes]
rs936181	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs936182	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs936186	1.00[EUR][1000 genomes]
rs9810881	1.00[EUR][1000 genomes]
rs9812407	1.00[EUR][1000 genomes]
rs9819344	1.00[EUR][1000 genomes]
rs9819475	1.00[EUR][1000 genomes]
rs9823480	1.00[EUR][1000 genomes]
rs9826488	1.00[EUR][1000 genomes]
rs9827293	1.00[EUR][1000 genomes]
rs9828473	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9833500	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9836801	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9850151	1.00[EUR][1000 genomes]
rs9852167	1.00[EUR][1000 genomes]
rs9861247	1.00[EUR][1000 genomes]
rs9861265	1.00[EUR][1000 genomes]
rs9862711	1.00[EUR][1000 genomes]
rs9869489	1.00[EUR][1000 genomes]
rs9878813	1.00[EUR][1000 genomes]
rs9883152	1.00[EUR][1000 genomes]
rs9883909	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9990284	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876755	chr3:46895109-47061183	Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3461834	chr3:46977730-47173228	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv3461835	chr3:46977822-47173168	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	esv3461836	chr3:46977822-47173168	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1009396	chr3:46994991-47048166	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
7	esv1800172	chr3:47013346-47049306	Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv590209	chr3:47018214-47050784	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
9	nsv876757	chr3:47018214-47058057	Active TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47021800-47036000	Weak transcription	Ovary	ovary
2	chr3:47022400-47039800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:47022400-47041600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr3:47022400-47041800	Weak transcription	Brain Germinal Matrix	brain
5	chr3:47022400-47042000	Weak transcription	Brain Substantia Nigra	brain
6	chr3:47022600-47049000	Weak transcription	Hela-S3	cervix
7	chr3:47022600-47050600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr3:47023200-47042000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr3:47024400-47039600	Weak transcription	HepG2	liver
10	chr3:47029000-47036200	Weak transcription	Colon Smooth Muscle	Colon
11	chr3:47029400-47038200	Strong transcription	Fetal Stomach	stomach
12	chr3:47029600-47038000	Weak transcription	HMEC	breast
13	chr3:47029800-47036600	Weak transcription	Fetal Muscle Leg	muscle
14	chr3:47029800-47038000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:47029800-47038400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr3:47029800-47039200	Strong transcription	Fetal Intestine Small	intestine
17	chr3:47029800-47040800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr3:47029800-47040800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr3:47029800-47041000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr3:47029800-47042000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr3:47029800-47042400	Weak transcription	Small Intestine	intestine
22	chr3:47029800-47042600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr3:47029800-47050600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr3:47030000-47036000	Weak transcription	Stomach Mucosa	stomach
25	chr3:47030000-47037800	Strong transcription	Fetal Intestine Large	intestine
26	chr3:47030000-47039400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr3:47030200-47036000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr3:47030200-47037400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr3:47030200-47044600	Weak transcription	Brain Hippocampus Middle	brain
30	chr3:47030400-47038200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr3:47030400-47039600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr3:47030800-47045600	Weak transcription	Aorta	Aorta
33	chr3:47031000-47036800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr3:47031000-47038000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr3:47031000-47039600	Weak transcription	A549	lung
36	chr3:47031000-47040000	Strong transcription	Duodenum Mucosa	Duodenum
37	chr3:47031000-47040400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr3:47031000-47041800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr3:47031000-47049600	Strong transcription	Gastric	stomach
40	chr3:47031000-47050200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr3:47031000-47053000	Strong transcription	Dnd41	blood
42	chr3:47031200-47037400	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr3:47031200-47039800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr3:47031400-47036600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr3:47031400-47037400	Strong transcription	Placenta Amnion	Placenta Amnion
46	chr3:47031400-47038400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr3:47031400-47039800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr3:47031600-47036400	Strong transcription	Esophagus	oesophagus
49	chr3:47031600-47037200	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr3:47031600-47038000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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