Variant report

Variant	rs372597924
Chromosome Location	chr6:132271910-132271911
allele	A/C
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	TAF1	chr6:132271152-132272777	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr6:132269199-132272798	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZBTB7A	chr6:132271645-132272037	HepG2	liver:	n/a	n/a
4	ZNF263	chr6:132271036-132272883	HEK293-T-REx	kidney:	n/a	chr6:132271863-132271872
5	EP300	chr6:132270958-132272840	HepG2	liver:	n/a	n/a
6	FOXP2	chr6:132271391-132272694	PFSK-1	brain:	n/a	n/a
7	CTCF	chr6:132271426-132271993	MCF-7	breast:	n/a	chr6:132271779-132271797 chr6:132271782-132271795
8	CTCF	chr6:132271605-132271997	HepG2	liver:	n/a	chr6:132271779-132271797 chr6:132271782-132271795
9	RAD21	chr6:132271485-132272077	HepG2	liver:	n/a	chr6:132271796-132271809 chr6:132271783-132271796 chr6:132271785-132271795
10	CTCF	chr6:132271585-132271972	MCF-7	breast:	n/a	chr6:132271779-132271797 chr6:132271782-132271795
11	POLR2A	chr6:132269231-132272053	U87	brain:	n/a	n/a
12	CHD2	chr6:132267213-132272030	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr6:132271564-132272252	A549	lung:	n/a	n/a
14	MXI1	chr6:132271025-132272841	HepG2	liver:	n/a	n/a
15	MAX	chr6:132270871-132272894	HepG2	liver:	n/a	n/a
16	POLR2A	chr6:132271078-132272775	Gliobla	brain:	n/a	n/a
17	CTCF	chr6:132271637-132271950	H1-hESC	embryonic stem cell:	n/a	chr6:132271779-132271797 chr6:132271782-132271795
18	FOXA1	chr6:132270789-132272907	HepG2	liver:	n/a	n/a
19	E2F4	chr6:132271869-132271933	MCF10A-Er-Src	breast:	n/a	n/a
20	CTCF	chr6:132271557-132271958	HepG2	liver:	n/a	chr6:132271779-132271797 chr6:132271782-132271795
21	CREB1	chr6:132270746-132272036	H1-hESC	embryonic stem cell:	n/a	n/a
22	RAD21	chr6:132270942-132272096	H1-hESC	embryonic stem cell:	n/a	chr6:132271796-132271809 chr6:132271783-132271796 chr6:132271785-132271795
23	MBD4	chr6:132270869-132272152	HepG2	liver:	n/a	n/a
24	CTCF	chr6:132270799-132272128	A549	lung:	n/a	chr6:132271779-132271797 chr6:132271782-132271795
25	RCOR1	chr6:132270977-132272926	HepG2	liver:	n/a	n/a
26	NR2F2	chr6:132269786-132273124	HepG2	liver:	n/a	n/a
27	POLR2A	chr6:132271830-132272623	A549	lung:	n/a	n/a
28	SIN3AK20	chr6:132271728-132272795	PANC-1	pancreas:	n/a	n/a
29	GATA3	chr6:132269693-132272021	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr6:132271077-132272674	A549	lung:	n/a	n/a
31	POLR2A	chr6:132270867-132272680	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr6:132271820-132272652	A549	lung:	n/a	n/a
33	SP4	chr6:132270926-132271966	H1-hESC	embryonic stem cell:	n/a	chr6:132271849-132271865 chr6:132271783-132271799
34	POLR2A	chr6:132267033-132272723	HepG2	liver:	n/a	n/a
35	PBX3	chr6:132270683-132272961	SK-N-SH	brain:	n/a	n/a
36	HEY1	chr6:132268004-132272823	HepG2	liver:	n/a	n/a
37	CHD2	chr6:132270879-132272766	HepG2	liver:	n/a	n/a
38	TBP	chr6:132270905-132272040	HepG2	liver:	n/a	n/a
39	POLR2A	chr6:132266659-132272679	HepG2	liver:	n/a	n/a
40	TCF7L2	chr6:132271873-132272929	PANC-1	pancreas:	n/a	n/a
41	POLR2A	chr6:132269776-132272855	PFSK-1	brain:	n/a	n/a
42	JUND	chr6:132270804-132272744	HepG2	liver:	n/a	chr6:132272521-132272530 chr6:132272566-132272575
43	POLR2A	chr6:132271881-132272651	ECC-1	luminal epithelium:	n/a	n/a
44	TAF7	chr6:132267350-132272864	H1-hESC	embryonic stem cell:	n/a	n/a
45	TEAD4	chr6:132271009-132272998	SK-N-SH	brain:	n/a	n/a
46	CTCF	chr6:132271655-132271930	A549	lung:	n/a	chr6:132271779-132271797 chr6:132271782-132271795
47	POLR2A	chr6:132269397-132272146	PANC-1	pancreas:	n/a	n/a
48	POLR2A	chr6:132267640-132272713	MCF10A-Er-Src	breast:	n/a	n/a
49	JUND	chr6:132267546-132272205	SK-N-SH	brain:	n/a	n/a
50	HNF4A	chr6:132271041-132272735	HepG2	liver:	n/a	chr6:132272657-132272672 chr6:132271715-132271728 chr6:132271715-132271728

No.	Distal block	Cell Line	Cell type	Cell Stage
1	6:132269655-132282174..6:132454814-132459405	GM12878	blood:
2	6:132269655-132282174..6:132434977-132438109	Hela-S3	cervix:
3	6:132269655-132282174..6:132402790-132406656	H1-hESC	embryonic stem cell:	embryo
4	6:132269655-132282174..6:132480387-132483283	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000227220	TF binding region
ENSG00000265669	Chromatin interaction
ENSG00000228495	Chromatin interaction
ENSG00000236166	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv7968	chr6:131917172-132321099	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	esv3398326	chr6:132269959-132274257	Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	n/a
3	esv3405704	chr6:132270884-132273432	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
4	esv3356801	chr6:132271409-132273607	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132269400-132272000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:132269400-132272000	Enhancers	Hela-S3	cervix
3	chr6:132269400-132273000	Active TSS	Ovary	ovary
4	chr6:132269800-132272800	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr6:132269800-132272800	Active TSS	Psoas Muscle	Psoas
6	chr6:132270000-132272600	Active TSS	Brain Anterior Caudate	brain
7	chr6:132270000-132273000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr6:132270200-132273200	Active TSS	Right Atrium	heart
9	chr6:132270400-132272400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:132270400-132272400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:132270400-132272600	Bivalent/Poised TSS	Thymus	Thymus
12	chr6:132270400-132272800	Active TSS	Colon Smooth Muscle	Colon
13	chr6:132270600-132272800	Active TSS	Stomach Smooth Muscle	stomach
14	chr6:132270600-132272800	Active TSS	HSMM	muscle
15	chr6:132270600-132272800	Active TSS	HSMMtube	muscle
16	chr6:132270600-132272800	Active TSS	NHDF-Ad	bronchial
17	chr6:132270600-132273000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:132270600-132273000	Active TSS	Fetal Kidney	kidney
19	chr6:132270600-132273000	Active TSS	Rectal Smooth Muscle	rectum
20	chr6:132270800-132272800	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr6:132270800-132272800	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr6:132271000-132273000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr6:132271200-132272000	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr6:132271200-132272200	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:132271200-132272400	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
26	chr6:132271200-132272600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:132271200-132272800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr6:132271200-132272800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:132271200-132273000	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr6:132271400-132272000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr6:132271400-132272200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
32	chr6:132271400-132272200	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
33	chr6:132271400-132272200	Flanking Active TSS	Right Ventricle	heart
34	chr6:132271400-132272800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:132271400-132272800	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr6:132271400-132272800	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr6:132271400-132273000	Active TSS	A549	lung
38	chr6:132271400-132273200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
39	chr6:132271600-132272000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
40	chr6:132271600-132272000	Active TSS	Primary hematopoietic stem cells	blood
41	chr6:132271600-132272000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
42	chr6:132271600-132272200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
43	chr6:132271600-132272400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
44	chr6:132271600-132272400	Active TSS	Spleen	Spleen
45	chr6:132271600-132272600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:132271600-132272600	Active TSS	Fetal Intestine Large	intestine
47	chr6:132271600-132272600	Active TSS	Small Intestine	intestine
48	chr6:132271600-132272600	Active TSS	NHEK	skin
49	chr6:132271600-132272800	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr6:132271600-132272800	Active TSS	iPS-18 Cell Line	embryonic stem cell

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