Variant report

Variant	rs371146545
Chromosome Location	chr6:29692971-29692972
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:29690698-29695012	GM18951	blood:	n/a	n/a
2	POLR2A	chr6:29690658-29699867	GM12891	blood:	n/a	n/a
3	POLR2A	chr6:29690711-29694858	GM19099	blood:	n/a	n/a
4	POU2F2	chr6:29692570-29693397	GM12891	blood:	n/a	n/a
5	POLR2A	chr6:29692496-29693666	GM12878	blood:	n/a	n/a
6	POLR2A	chr6:29690692-29694256	GM12892	blood:	n/a	n/a
7	PAX5	chr6:29692650-29692980	GM12878	blood:	n/a	n/a
8	POLR2A	chr6:29690575-29695009	GM12878	blood:	n/a	n/a
9	POLR2A	chr6:29690785-29699707	GM12878	blood:	n/a	n/a
10	POU2F2	chr6:29692503-29693348	GM12878	blood:	n/a	n/a
11	IRF4	chr6:29692836-29693156	GM12878	blood:	n/a	n/a
12	POLR2A	chr6:29691899-29694250	GM12891	blood:	n/a	n/a
13	POLR2A	chr6:29690681-29699847	GM12878	blood:	n/a	n/a
14	POLR2A	chr6:29692600-29693676	GM12891	blood:	n/a	n/a
15	POLR2A	chr6:29690708-29699614	GM18505	blood:	n/a	n/a
16	POLR2A	chr6:29690566-29699452	GM12892	blood:	n/a	n/a
17	POLR2A	chr6:29690657-29697457	GM12892	blood:	n/a	n/a
18	POLR2A	chr6:29690680-29694233	GM12891	blood:	n/a	n/a
19	WRNIP1	chr6:29692089-29694213	GM12878	blood:	n/a	n/a
20	POLR2A	chr6:29690622-29694243	GM12891	blood:	n/a	n/a
21	POLR2A	chr6:29692521-29693639	GM12878	blood:	n/a	n/a
22	POLR2A	chr6:29690697-29694189	GM19193	blood:	n/a	n/a
23	POLR2A	chr6:29690618-29699456	GM12892	blood:	n/a	n/a
24	POLR2A	chr6:29690594-29697494	GM12878	blood:	n/a	n/a
25	POLR2A	chr6:29692445-29694967	GM12892	blood:	n/a	n/a
26	POLR2A	chr6:29690758-29693733	GM12878	blood:	n/a	n/a
27	POLR2A	chr6:29690694-29694125	GM18526	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:29689319..29693460-chr6:29694038..29698697,5	MCF-7	breast:
2	chr6:29692276..29694420-chr6:29705513..29707651,2	MCF-7	breast:
3	chr6:29691971..29693668-chr6:29693958..29696725,2	K562	blood:

No data

Variant related genes	Relation type
HLA-F	TF binding region
HCG4P11	TF binding region
ENSG00000239257	Chromatin interaction
ENSG00000214922	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv20940	chr6:29653954-29923410	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv428475	chr6:29659525-29763392	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv428139	chr6:29659525-29892317	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv427749	chr6:29659525-29975144	Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv508397	chr6:29663132-29761448	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	esv1821077	chr6:29670915-29726207	Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	esv1794141	chr6:29670915-29765814	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv462673	chr6:29689590-29700183	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv601230	chr6:29689590-29700183	Flanking Active TSS Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv970101	chr6:29692268-29695615	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv883531	chr6:29692562-29705402	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv10809	chr6:29692573-29794119	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29690600-29693000	Active TSS	Rectal Smooth Muscle	rectum
2	chr6:29690600-29693000	Active TSS	Small Intestine	intestine
3	chr6:29690600-29694200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
4	chr6:29691200-29694000	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
5	chr6:29691200-29695000	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
6	chr6:29691200-29695400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
7	chr6:29691400-29694000	Transcr. at gene 5' and 3'	Colonic Mucosa	Colon
8	chr6:29691400-29694200	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 1	blood
9	chr6:29691400-29694200	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
10	chr6:29691600-29694000	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
11	chr6:29692000-29693400	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
12	chr6:29692000-29693400	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
13	chr6:29692000-29694000	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
14	chr6:29692000-29694000	Transcr. at gene 5' and 3'	Sigmoid Colon	Sigmoid Colon
15	chr6:29692000-29694200	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
16	chr6:29692000-29694200	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
17	chr6:29692000-29694200	Transcr. at gene 5' and 3'	Primary T killer naive cells fromperipheralblood	blood
18	chr6:29692000-29694200	Transcr. at gene 5' and 3'	Primary T killer memory cells from peripheral blood	blood
19	chr6:29692000-29694400	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
20	chr6:29692000-29695000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
21	chr6:29692200-29693000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:29692200-29693400	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
23	chr6:29692200-29694000	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
24	chr6:29692200-29694000	Transcr. at gene 5' and 3'	Lung	lung
25	chr6:29692200-29694000	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
26	chr6:29692200-29694200	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
27	chr6:29692200-29694600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
28	chr6:29692200-29701800	Weak transcription	HMEC	breast
29	chr6:29692200-29715800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr6:29692400-29693000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr6:29692400-29693200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:29692400-29693200	Weak transcription	Aorta	Aorta
33	chr6:29692400-29693400	Weak transcription	Brain Substantia Nigra	brain
34	chr6:29692400-29693400	Genic enhancers	Gastric	stomach
35	chr6:29692400-29693400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr6:29692400-29693400	Enhancers	Stomach Mucosa	stomach
37	chr6:29692400-29693600	Transcr. at gene 5' and 3'	Brain Anterior Caudate	brain
38	chr6:29692400-29694000	Bivalent Enhancer	Placenta	Placenta
39	chr6:29692400-29694200	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 2	blood
40	chr6:29692400-29694600	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
41	chr6:29692400-29695600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr6:29692400-29715800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:29692600-29693000	Weak transcription	Brain Hippocampus Middle	brain
44	chr6:29692600-29693000	Transcr. at gene 5' and 3'	Left Ventricle	heart
45	chr6:29692600-29693000	Weak transcription	Pancreas	Pancrea
46	chr6:29692600-29693000	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
47	chr6:29692600-29693200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr6:29692600-29693200	Genic enhancers	Brain Angular Gyrus	brain
49	chr6:29692600-29693200	Weak transcription	Right Atrium	heart
50	chr6:29692600-29693400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived

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