Variant report

Variant	rs3756857
Chromosome Location	chr6:34858578-34858579
allele	C/T
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	MXI1	chr6:34854896-34858736	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr6:34858515-34858676	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:34853107..34854715-chr6:34857316..34859285,2	MCF-7	breast:
2	chr6:34857178..34858858-chr6:35234868..35237489,2	MCF-7	breast:
3	chr6:34858328..34861023-chr6:34902579..34904193,2	K562	blood:
4	chr6:34203408..34205869-chr6:34858444..34860576,2	K562	blood:
5	chr6:34758735..34762506-chr6:34853024..34858695,7	MCF-7	breast:

Variant related genes	Relation type
TAF11	TF binding region
ENSG00000137309	Chromatin interaction
ENSG00000065060	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs1125342	0.81[ASN][1000 genomes]
rs11970238	0.80[ASN][1000 genomes]
rs12173920	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12175621	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12176092	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16894102	0.81[ASN][1000 genomes]
rs16894945	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16894995	0.89[ASN][1000 genomes]
rs16895362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16895467	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16896235	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2236392	0.81[ASN][1000 genomes]
rs2273007	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3734260	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3734263	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3756858	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3777751	0.83[ASN][1000 genomes]
rs3798349	0.83[ASN][1000 genomes]
rs3798351	0.81[ASN][1000 genomes]
rs3800442	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3800447	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3800449	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3807051	0.83[ASN][1000 genomes]
rs4646923	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56825685	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs57338415	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs57608318	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57637041	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs57645599	0.81[ASN][1000 genomes]
rs58654146	0.83[ASN][1000 genomes]
rs58764768	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs58817410	0.83[ASN][1000 genomes]
rs58833137	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs59851773	0.83[ASN][1000 genomes]
rs59884600	0.81[ASN][1000 genomes]
rs60439875	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs60509690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60815469	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73417786	0.81[ASN][1000 genomes]
rs73419615	0.83[ASN][1000 genomes]
rs73419643	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73419650	0.86[ASN][1000 genomes]
rs73419656	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73419658	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73419660	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73419689	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73421513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421527	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73421528	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73421536	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73421541	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs847849	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9348952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9348954	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9348955	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9348956	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9357186	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9357189	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9357191	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9366871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9366873	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9368840	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9368842	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9380471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9380472	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9380475	0.82[ASN][1000 genomes]
rs9394253	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9394257	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9394258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9394259	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9394261	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9394262	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9394264	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9394265	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv885785	chr6:34404636-34874002	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv885793	chr6:34520267-34886436	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	esv2763967	chr6:34566255-34925463	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv1020710	chr6:34607214-34890143	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv870010	chr6:34713359-34880048	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv1025374	chr6:34723723-34887316	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv462905	chr6:34728253-34886436	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
10	nsv602906	chr6:34728253-34886436	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
11	nsv1028363	chr6:34733071-34859045	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
12	nsv1015792	chr6:34741917-34887316	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv1021733	chr6:34751052-34887316	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv1026121	chr6:34786887-34961360	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
15	nsv885797	chr6:34791027-34980601	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
16	nsv1033135	chr6:34802652-34957093	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
17	nsv508402	chr6:34840961-34951288	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	diseases
18	esv3342647	chr6:34855999-34858847	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34854400-34859200	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr6:34854600-34858600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:34854600-34858600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:34854600-34858800	Active TSS	H9 Cell Line	embryonic stem cell
5	chr6:34854600-34858800	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr6:34854600-34858800	Active TSS	Right Ventricle	heart
7	chr6:34854600-34859000	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr6:34854800-34858600	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr6:34854800-34858800	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr6:34855000-34858800	Active TSS	Ovary	ovary
11	chr6:34855400-34858800	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr6:34857400-34858600	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr6:34857400-34859200	Active TSS	Right Atrium	heart
14	chr6:34857600-34858600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:34857600-34858600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:34857600-34858600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
17	chr6:34857600-34858800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:34857600-34859200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr6:34857800-34858600	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr6:34857800-34858600	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr6:34857800-34858600	Enhancers	Placenta Amnion	Placenta Amnion
22	chr6:34857800-34858600	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr6:34857800-34858600	Flanking Active TSS	Thymus	Thymus
24	chr6:34857800-34859000	Flanking Active TSS	Fetal Muscle Leg	muscle
25	chr6:34857800-34859000	Flanking Active TSS	Dnd41	blood
26	chr6:34857800-34859200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr6:34857800-34869200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr6:34858000-34858600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:34858000-34858600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr6:34858000-34858600	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr6:34858000-34858600	Flanking Active TSS	Fetal Intestine Small	intestine
32	chr6:34858000-34858600	Flanking Active TSS	Fetal Stomach	stomach
33	chr6:34858000-34858600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
34	chr6:34858000-34858800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr6:34858000-34858800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:34858000-34858800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr6:34858000-34858800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr6:34858000-34858800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr6:34858000-34859000	Enhancers	Primary B cells from peripheral blood	blood
40	chr6:34858000-34859000	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr6:34858000-34860200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr6:34858000-34877600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr6:34858200-34858600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
44	chr6:34858200-34858600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:34858200-34858600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:34858200-34858600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:34858200-34858600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr6:34858200-34858600	Enhancers	Primary T cells fromperipheralblood	blood
49	chr6:34858200-34858600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr6:34858200-34858600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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