Variant report

Variant	rs657551
Chromosome Location	chr6:161414495-161414496
allele	C/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	IRF1	chr6:161411201-161414520	K562	blood:	n/a	chr6:161412699-161412713 chr6:161412677-161412691 chr6:161413152-161413166
2	POLR2A	chr6:161414462-161414701	MCF10A-Er-Src	breast:	n/a	n/a
3	CHD1	chr6:161411694-161414825	IMR90	lung:	n/a	chr6:161412623-161412633 chr6:161412679-161412689
4	MAZ	chr6:161411975-161414725	IMR90	lung:	n/a	chr6:161412941-161412950

No.	Distal block	Cell Line	Cell type
1	chr6:161413290..161415523-chr6:161493926..161495745,2	K562	blood:
2	chr6:161171347..161171874-chr6:161413503..161414501,3	K562	blood:
3	chr6:161413545..161416445-chr6:161589800..161592180,2	K562	blood:
4	chr6:161412566..161414577-chr6:161651798..161653599,2	K562	blood:
5	chr6:161414058..161416452-chr6:161484999..161486533,2	K562	blood:

Variant related genes	Relation type
ENSG00000272841	TF binding region
ENSG00000085511	Chromatin interaction
ENSG00000026652	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1001809	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13194157	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1464779	1.00[ASN][1000 genomes]
rs1464780	1.00[ASN][1000 genomes]
rs1543261	1.00[ASN][1000 genomes]
rs1562026	1.00[ASN][1000 genomes]
rs1982291	1.00[ASN][1000 genomes]
rs2872613	1.00[ASN][1000 genomes]
rs4472323	1.00[ASN][1000 genomes]
rs4559074	1.00[ASN][1000 genomes]
rs4708898	1.00[ASN][1000 genomes]
rs4709486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709489	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709490	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709491	1.00[ASN][1000 genomes]
rs4709493	1.00[ASN][1000 genomes]
rs4709495	1.00[ASN][1000 genomes]
rs4709496	1.00[ASN][1000 genomes]
rs587501	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs615269	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs619393	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs628430	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs628923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6455701	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs645718	1.00[ASN][1000 genomes]
rs647923	0.82[EUR][1000 genomes]
rs655605	0.88[EUR][1000 genomes]
rs662541	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs668638	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs682110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs683549	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs685388	0.80[EUR][1000 genomes]
rs6902332	1.00[ASN][1000 genomes]
rs6902760	1.00[ASN][1000 genomes]
rs6905942	1.00[ASN][1000 genomes]
rs6908283	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6913706	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6918476	1.00[ASN][1000 genomes]
rs6919831	1.00[ASN][1000 genomes]
rs6925502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6925800	1.00[ASN][1000 genomes]
rs6929462	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6933810	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705829	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7738762	1.00[ASN][1000 genomes]
rs7753585	1.00[ASN][1000 genomes]
rs7760056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9346846	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9355330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9355332	1.00[ASN][1000 genomes]
rs9355867	1.00[ASN][1000 genomes]
rs9355872	1.00[ASN][1000 genomes]
rs9355873	1.00[ASN][1000 genomes]
rs9364585	1.00[ASN][1000 genomes]
rs9364586	1.00[ASN][1000 genomes]
rs9458126	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422347	chr6:161211171-161442377	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS 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
2	nsv1030045	chr6:161359075-161562255	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv886817	chr6:161371621-161846654	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv3381361	chr6:161373617-161864101	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv1023982	chr6:161382188-161549831	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	esv3427182	chr6:161411987-161414535	Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161411200-161414600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:161411800-161417800	Active TSS	GM12878-XiMat	blood
3	chr6:161413400-161414800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:161413600-161416400	Weak transcription	Spleen	Spleen
5	chr6:161413800-161416400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:161413800-161416400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:161413800-161416400	Weak transcription	Esophagus	oesophagus
8	chr6:161413800-161416400	Weak transcription	Gastric	stomach
9	chr6:161413800-161416400	Weak transcription	Lung	lung
10	chr6:161413800-161416400	Weak transcription	Pancreas	Pancrea
11	chr6:161413800-161416400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr6:161413800-161416400	Weak transcription	Small Intestine	intestine
13	chr6:161413800-161432000	Weak transcription	Aorta	Aorta
14	chr6:161413800-161433000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:161414000-161414600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:161414000-161414600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:161414000-161414600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:161414000-161414600	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr6:161414000-161414600	Transcr. at gene 5' and 3'	K562	blood
20	chr6:161414000-161414800	Enhancers	Liver	Liver
21	chr6:161414000-161415000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr6:161414000-161415400	Enhancers	Primary B cells from peripheral blood	blood
23	chr6:161414000-161415600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr6:161414000-161415800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr6:161414000-161416000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr6:161414000-161416400	Weak transcription	Fetal Thymus	thymus
27	chr6:161414000-161416400	Weak transcription	Left Ventricle	heart
28	chr6:161414000-161416800	Weak transcription	Right Atrium	heart
29	chr6:161414000-161417200	Weak transcription	Brain Substantia Nigra	brain
30	chr6:161414000-161422400	Weak transcription	Fetal Muscle Leg	muscle
31	chr6:161414000-161430800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:161414000-161432000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr6:161414200-161414600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:161414200-161414600	Enhancers	Primary B cells from cord blood	blood
35	chr6:161414200-161414600	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr6:161414200-161414600	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr6:161414200-161414600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:161414200-161414600	Enhancers	Fetal Brain Male	brain
39	chr6:161414200-161414600	Enhancers	Fetal Heart	heart
40	chr6:161414200-161414600	Enhancers	HSMM	muscle
41	chr6:161414200-161414800	Enhancers	Primary T cells from cord blood	blood
42	chr6:161414200-161414800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr6:161414200-161414800	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr6:161414200-161414800	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr6:161414200-161414800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:161414200-161414800	Enhancers	Colon Smooth Muscle	Colon
47	chr6:161414200-161414800	Enhancers	Duodenum Mucosa	Duodenum
48	chr6:161414200-161414800	Enhancers	Fetal Lung	lung
49	chr6:161414200-161414800	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr6:161414200-161414800	Enhancers	Hela-S3	cervix

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