Variant report

Variant	rs401465
Chromosome Location	chr3:191071568-191071569
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:191064142..191066044-chr3:191070268..191071943,3	K562	blood:
2	chr3:191059352..191066044-chr3:191070268..191075568,9	K562	blood:
3	chr3:191060607..191064094-chr3:191071227..191073545,3	K562	blood:

Extended variants
information (count: 132 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10937477	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1347400	0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1465737	0.87[ASN][1000 genomes]
rs1473866	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs150506	0.91[ASN][1000 genomes]
rs159488	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs159489	0.91[ASN][1000 genomes]
rs176820	0.82[CHB][hapmap]
rs186063	0.82[CHB][hapmap]
rs186066	1.00[CHB][hapmap];0.81[JPT][hapmap];0.91[ASN][1000 genomes]
rs188384	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs188385	0.87[ASN][1000 genomes]
rs192671	1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs293797	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs293798	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs293800	0.89[ASN][1000 genomes]
rs293802	0.82[CHB][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs293804	0.89[ASN][1000 genomes]
rs293805	0.85[ASN][1000 genomes]
rs293806	0.82[CHB][hapmap];0.89[ASN][1000 genomes]
rs293808	0.91[ASN][1000 genomes]
rs293815	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs293844	0.91[ASN][1000 genomes]
rs293846	0.91[ASN][1000 genomes]
rs293851	0.91[ASN][1000 genomes]
rs297396	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs366626	0.82[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs367747	0.89[ASN][1000 genomes]
rs368665	0.89[ASN][1000 genomes]
rs369174	0.82[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs373035	0.91[ASN][1000 genomes]
rs381090	0.91[ASN][1000 genomes]
rs383075	0.87[ASN][1000 genomes]
rs390744	0.91[ASN][1000 genomes]
rs426466	0.91[ASN][1000 genomes]
rs432085	1.00[CHB][hapmap];0.81[JPT][hapmap];0.91[ASN][1000 genomes]
rs434556	0.89[ASN][1000 genomes]
rs437244	0.89[ASN][1000 genomes]
rs448133	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs448643	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs4677630	0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4677734	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4677735	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs523270	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs525774	0.91[ASN][1000 genomes]
rs526785	0.91[ASN][1000 genomes]
rs529523	0.91[ASN][1000 genomes]
rs566548	0.82[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs6779820	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6953	1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs697905	0.82[CHB][hapmap];0.89[ASN][1000 genomes]
rs709142	0.91[ASN][1000 genomes]
rs9847278	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428100	chr3:190793797-191092633	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv931943	chr3:190860224-191321873	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2757910	chr3:190867011-191279107	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2759209	chr3:190867011-191279107	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv428428	chr3:190936834-191215596	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv998208	chr3:191021434-191175350	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv1851611	chr3:191028147-191073560	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv534269	chr3:191037181-191261730	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv461054	chr3:191060954-191073228	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv592821	chr3:191060954-191073228	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv461055	chr3:191061214-191073228	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv461056	chr3:191061214-191073228	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv592824	chr3:191061214-191073228	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv878105	chr3:191061214-191073228	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv516440	chr3:191061214-191073706	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	esv3429054	chr3:191063458-191072756	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv437353	chr3:191063743-191073228	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	nsv437354	chr3:191063743-191073228	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	esv3486622	chr3:191063908-191072706	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	nsv508266	chr3:191064212-191083637	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
21	nsv965411	chr3:191064232-191071728	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	nsv10371	chr3:191064248-191071834	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	esv3463078	chr3:191064302-191071930	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	esv1808657	chr3:191064330-191081793	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
25	nsv592827	chr3:191064528-191073228	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
26	nsv878106	chr3:191064528-191081344	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
27	esv3463076	chr3:191064547-191071768	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
28	nsv435761	chr3:191064550-191073833	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
29	esv3486623	chr3:191064583-191071753	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
30	esv3486618	chr3:191064586-191071714	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
31	esv3463079	chr3:191064602-191071736	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
32	esv3463077	chr3:191064603-191071734	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
33	esv3486621	chr3:191064604-191071722	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
34	esv3463075	chr3:191064623-191071695	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
35	esv988126	chr3:191064635-191071632	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
36	esv999982	chr3:191064641-191071649	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
37	nsv821209	chr3:191064641-191071711	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
38	nsv819154	chr3:191064652-191071679	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
39	esv3463080	chr3:191064686-191071668	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
40	esv3486624	chr3:191064686-191071668	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
41	esv21125	chr3:191064731-191071632	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
42	esv1822702	chr3:191064803-191073199	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
43	esv1823184	chr3:191064803-191082303	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
44	esv1848120	chr3:191064803-191082303	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
45	esv1826098	chr3:191065392-191071568	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
46	esv1828871	chr3:191065392-191071568	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
47	esv1834533	chr3:191065392-191071568	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
48	esv1835574	chr3:191065392-191071568	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
49	esv1835723	chr3:191065392-191071568	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
50	nsv592833	chr3:191065392-191071568	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191050200-191074800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:191060600-191074800	Weak transcription	Primary B cells from cord blood	blood
3	chr3:191061200-191073200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:191061200-191073200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:191062000-191075600	Weak transcription	K562	blood
6	chr3:191062200-191075400	Weak transcription	Fetal Brain Female	brain
7	chr3:191063000-191076600	Weak transcription	Brain Substantia Nigra	brain
8	chr3:191064600-191072000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr3:191067600-191071600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr3:191067800-191071600	Enhancers	Adipose Nuclei	Adipose
11	chr3:191068200-191072000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr3:191068400-191073200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr3:191068600-191073200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:191068600-191073800	Weak transcription	NHLF	lung
15	chr3:191068600-191074600	Weak transcription	Fetal Stomach	stomach
16	chr3:191068600-191075000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr3:191068600-191075000	Weak transcription	Aorta	Aorta
18	chr3:191068600-191076600	Weak transcription	Fetal Kidney	kidney
19	chr3:191068800-191073400	Weak transcription	Osteobl	bone
20	chr3:191068800-191073600	Weak transcription	HSMM	muscle
21	chr3:191068800-191075400	Enhancers	Colon Smooth Muscle	Colon
22	chr3:191068800-191078800	Weak transcription	Fetal Brain Male	brain
23	chr3:191069000-191071600	Enhancers	A549	lung
24	chr3:191069400-191074200	Enhancers	HUVEC	blood vessel
25	chr3:191069400-191075000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr3:191069600-191072200	Enhancers	Fetal Intestine Large	intestine
27	chr3:191069600-191073200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr3:191069600-191073400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr3:191069800-191072000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr3:191069800-191073200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr3:191069800-191096000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr3:191070200-191073200	Weak transcription	HMEC	breast
33	chr3:191070200-191073200	Weak transcription	NH-A	brain
34	chr3:191070200-191073200	Weak transcription	NHEK	skin
35	chr3:191070400-191073200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr3:191070600-191071800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr3:191070800-191071800	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr3:191070800-191071800	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr3:191070800-191073800	Enhancers	Primary B cells from peripheral blood	blood
40	chr3:191071000-191071800	Flanking Active TSS	Liver	Liver
41	chr3:191071000-191072600	Enhancers	Brain Anterior Caudate	brain
42	chr3:191071000-191072600	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr3:191071000-191073200	Weak transcription	Hela-S3	cervix
44	chr3:191071000-191074800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr3:191071000-191076000	Weak transcription	Primary T cells from cord blood	blood
46	chr3:191071000-191088400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr3:191071200-191071600	Enhancers	GM12878-XiMat	blood
48	chr3:191071200-191071800	Flanking Active TSS	HepG2	liver
49	chr3:191071200-191073800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr3:191071200-191074000	Weak transcription	Fetal Muscle Leg	muscle

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