Variant report

Variant	rs537504767
Chromosome Location	chr6:1389521-1389522
allele	G/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	EGR1	chr6:1389436-1390223	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr6:1389366-1390078	HEK293	kidney:	n/a	n/a
3	MAZ	chr6:1388958-1390677	IMR90	lung:	n/a	chr6:1389407-1389417
4	TCF12	chr6:1389521-1389697	H1-hESC	embryonic stem cell:	n/a	n/a
5	ZNF143	chr6:1389458-1389809	H1-hESC	embryonic stem cell:	n/a	n/a
6	SUZ12	chr6:1388316-1389983	H1-hESC	embryonic stem cell:	n/a	n/a
7	ZNF263	chr6:1388324-1390160	HEK293-T-REx	kidney:	n/a	chr6:1389597-1389606 chr6:1388635-1388644 chr6:1388634-1388655
8	CTBP2	chr6:1389053-1391565	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr6:1389213-1390169	Hela-S3	cervix:	n/a	n/a
10	MXI1	chr6:1388332-1389714	IMR90	lung:	n/a	n/a
11	EGR1	chr6:1389510-1389830	H1-hESC	embryonic stem cell:	n/a	n/a
12	SP1	chr6:1389472-1389815	H1-hESC	embryonic stem cell:	n/a	chr6:1389592-1389606
13	TCF12	chr6:1389468-1389702	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD1	chr6:1388277-1394777	IMR90	lung:	n/a	chr6:1389414-1389424

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:1389385..1390191-chr9:130213802..130214756,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000261730	TF binding region
FOXF2	TF binding region
ENSG00000148356	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024111	chr6:1231850-1730146	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv883369	chr6:1244837-1416849	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1017614	chr6:1248650-1423502	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1021924	chr6:1254891-1736995	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv538082	chr6:1254891-1736995	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv1029972	chr6:1307337-1391814	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1015744	chr6:1307337-1395551	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1027053	chr6:1307337-1397924	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv1027089	chr6:1313404-1391814	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1031351	chr6:1313404-1395551	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
11	nsv1028654	chr6:1313404-1397924	Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv1022280	chr6:1313404-1406015	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
13	nsv538087	chr6:1313404-1406015	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
14	nsv883370	chr6:1349828-1426790	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
15	nsv917248	chr6:1365437-1627813	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
16	nsv883371	chr6:1374277-1416849	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
17	nsv883372	chr6:1374277-1426790	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
18	esv3340220	chr6:1388928-1391901	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	n/a
19	esv3326377	chr6:1388978-1391526	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1387200-1389800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
2	chr6:1387400-1390800	Bivalent/Poised TSS	Colonic Mucosa	Colon
3	chr6:1387600-1390800	Active TSS	NHLF	lung
4	chr6:1387800-1389600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
5	chr6:1387800-1389600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
6	chr6:1387800-1389600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
7	chr6:1387800-1392800	Active TSS	Colon Smooth Muscle	Colon
8	chr6:1388000-1389600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr6:1388000-1389600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
10	chr6:1388000-1389600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr6:1388000-1389600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr6:1388000-1390600	Enhancers	Spleen	Spleen
13	chr6:1388000-1395200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
14	chr6:1388200-1394400	Bivalent/Poised TSS	Fetal Lung	lung
15	chr6:1388400-1389600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:1388400-1389600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
17	chr6:1388400-1389600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:1388400-1389600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr6:1388400-1389800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:1388400-1389800	Bivalent Enhancer	Fetal Muscle Leg	muscle
21	chr6:1388400-1390000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr6:1388400-1390600	Active TSS	Lung	lung
23	chr6:1388400-1391400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
24	chr6:1388600-1389600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
25	chr6:1388600-1389600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
26	chr6:1388600-1389600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
27	chr6:1388600-1389600	Bivalent Enhancer	Fetal Heart	heart
28	chr6:1388600-1389600	Bivalent Enhancer	Placenta	Placenta
29	chr6:1388600-1390400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:1388600-1393000	Active TSS	NHDF-Ad	bronchial
31	chr6:1388800-1389600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
32	chr6:1388800-1389600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
33	chr6:1388800-1389600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
34	chr6:1388800-1389600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
35	chr6:1388800-1389600	Flanking Active TSS	Hela-S3	cervix
36	chr6:1388800-1390600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:1388800-1391800	Bivalent Enhancer	Liver	Liver
38	chr6:1389000-1389600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
39	chr6:1389000-1389600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
40	chr6:1389000-1389600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
41	chr6:1389000-1389600	Bivalent Enhancer	Fetal Brain Male	brain
42	chr6:1389000-1391200	Active TSS	Right Atrium	heart
43	chr6:1389000-1391400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
44	chr6:1389000-1391800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
45	chr6:1389000-1392600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:1389200-1389600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr6:1389200-1389600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
48	chr6:1389200-1389600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
49	chr6:1389200-1389600	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
50	chr6:1389200-1389600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach

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