Variant report

Variant	rs535316254
Chromosome Location	chr6:37136754-37136755
allele	-/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	RCOR1	chr6:37136669-37136869	K562	blood:	n/a	n/a
2	RUNX3	chr6:37136634-37138394	GM12878	blood:	n/a	n/a
3	MXI1	chr6:37136696-37140545	IMR90	lung:	n/a	n/a
4	MTA3	chr6:37136526-37137622	GM12878	blood:	n/a	n/a
5	MAZ	chr6:37136662-37140555	K562	blood:	n/a	chr6:37136825-37136834 chr6:37140193-37140202 chr6:37137163-37137172 chr6:37140188-37140203 chr6:37140191-37140202 chr6:37140190-37140203 chr6:37136748-37136758 chr6:37140190-37140205 chr6:37140192-37140201 chr6:37140190-37140203 chr6:37140192-37140201 chr6:37140192-37140202 chr6:37140191-37140201 chr6:37140190-37140203 chr6:37138443-37138453
6	POLR2A	chr6:37136735-37138426	GM19099	blood:	n/a	n/a
7	MYBL2	chr6:37136616-37137894	HepG2	liver:	n/a	n/a
8	POLR2A	chr6:37136579-37146396	PBDE	blood:	n/a	n/a
9	MAFF	chr6:37136748-37137056	K562	blood:	n/a	chr6:37136921-37136939
10	POLR2A	chr6:37136637-37145170	Hela-S3	cervix:	n/a	n/a
11	MXI1	chr6:37136407-37140568	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr6:37135827-37146353	K562	blood:	n/a	n/a
13	ARID3A	chr6:37136744-37137110	K562	blood:	n/a	n/a
14	TAF7	chr6:37136702-37137654	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr6:37136732-37136905	HepG2	liver:	n/a	n/a
16	POLR2A	chr6:37136678-37139481	Raji	blood:	n/a	n/a
17	POLR2A	chr6:37136673-37137634	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr6:37136735-37137481	HepG2	liver:	n/a	n/a
19	RCOR1	chr6:37136749-37138402	K562	blood:	n/a	n/a
20	RELA	chr6:37136728-37137579	GM15510	blood:	n/a	chr6:37136755-37136764 chr6:37136755-37136764
21	CHD1	chr6:37136448-37141220	IMR90	lung:	n/a	chr6:37137563-37137573 chr6:37137940-37137950 chr6:37137591-37137598 chr6:37138885-37138895
22	PBX3	chr6:37136745-37138156	SK-N-SH	brain:	n/a	n/a
23	MAX	chr6:37136714-37138165	Hela-S3	cervix:	n/a	chr6:37136825-37136834 chr6:37137163-37137172 chr6:37136748-37136758
24	SP1	chr6:37136682-37138112	A549	lung:	n/a	chr6:37137252-37137261 chr6:37137571-37137585 chr6:37137547-37137561 chr6:37137570-37137581 chr6:37136874-37136885 chr6:37136744-37136758 chr6:37137572-37137581 chr6:37137513-37137527 chr6:37137571-37137581 chr6:37137546-37137557 chr6:37137507-37137516 chr6:37137570-37137582 chr6:37137571-37137580 chr6:37137570-37137582 chr6:37137506-37137518
25	POLR2A	chr6:37136661-37141160	K562	blood:	n/a	n/a
26	CHD2	chr6:37136693-37138364	Hela-S3	cervix:	n/a	chr6:37137563-37137573 chr6:37137940-37137950 chr6:37137591-37137598
27	SMARCB1	chr6:37136741-37137617	Hela-S3	cervix:	n/a	chr6:37137284-37137293
28	SMC3	chr6:37135928-37140659	SK-N-SH	brain:	n/a	chr6:37140122-37140136 chr6:37139751-37139758 chr6:37137226-37137236 chr6:37140122-37140132
29	MBD4	chr6:37136568-37137688	HepG2	liver:	n/a	n/a
30	ZBTB7A	chr6:37136650-37137785	K562	blood:	n/a	n/a
31	POLR2A	chr6:37135879-37139633	H1-hESC	embryonic stem cell:	n/a	n/a
32	JUND	chr6:37136686-37137702	H1-hESC	embryonic stem cell:	n/a	chr6:37137161-37137172 chr6:37137284-37137292 chr6:37137287-37137299 chr6:37137549-37137558
33	FOXM1	chr6:37136641-37137072	GM12878	blood:	n/a	n/a
34	POLR2A	chr6:37136495-37137577	HepG2	liver:	n/a	n/a
35	TAF1	chr6:37136652-37137454	PFSK-1	brain:	n/a	n/a
36	MAX	chr6:37136692-37138598	SK-N-SH	brain:	n/a	chr6:37136825-37136834 chr6:37137163-37137172 chr6:37136748-37136758 chr6:37138443-37138453
37	CREB1	chr6:37136753-37140395	HepG2	liver:	n/a	n/a
38	POLR2A	chr6:37136684-37137528	GM12891	blood:	n/a	n/a
39	HEY1	chr6:37136516-37137661	HepG2	liver:	n/a	chr6:37137102-37137117 chr6:37137111-37137126 chr6:37137338-37137353
40	CCNT2	chr6:37136603-37139482	K562	blood:	n/a	chr6:37137572-37137581
41	POLR2A	chr6:37136744-37137607	MCF10A-Er-Src	breast:	n/a	n/a
42	PML	chr6:37136529-37138077	GM12878	blood:	n/a	n/a
43	TAF1	chr6:37136742-37137659	Hela-S3	cervix:	n/a	n/a
44	TEAD4	chr6:37136546-37146261	K562	blood:	n/a	n/a
45	TEAD4	chr6:37136747-37137750	K562	blood:	n/a	n/a
46	POLR2A	chr6:37136696-37138278	HUVEC	blood vessel:	n/a	n/a
47	CUX1	chr6:37136591-37136832	K562	blood:	n/a	n/a
48	MXI1	chr6:37136723-37137612	GM12878	blood:	n/a	n/a
49	EGR1	chr6:37136752-37138039	K562	blood:	n/a	chr6:37137185-37137198 chr6:37137718-37137732 chr6:37137655-37137669
50	CEBPB	chr6:37136653-37137070	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:65596619..65597760-chr6:37136409..37137556,3	Hela-S3	cervix:
2	chr6:37058109..37060738-chr6:37135509..37137809,2	MCF-7	breast:
3	chr6:37105482..37108115-chr6:37135439..37137000,2	K562	blood:
4	chr6:37121872..37123647-chr6:37135726..37137977,2	MCF-7	breast:

Variant related genes	Relation type
PIM1	TF binding region
ENSG00000216412	Chromatin interaction
ENSG00000200156	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3334326	chr6:37136424-37139122	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	esv3423280	chr6:37136599-37139147	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37110400-37136800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:37123600-37137000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:37129000-37137200	Weak transcription	Small Intestine	intestine
4	chr6:37133400-37136800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:37135800-37137400	Enhancers	Fetal Heart	heart
6	chr6:37136000-37136800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:37136000-37136800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr6:37136000-37136800	Enhancers	Placenta	Placenta
9	chr6:37136000-37136800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr6:37136000-37137000	Flanking Active TSS	NHDF-Ad	bronchial
11	chr6:37136000-37137200	Flanking Active TSS	K562	blood
12	chr6:37136000-37137400	Enhancers	Spleen	Spleen
13	chr6:37136000-37139800	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr6:37136200-37136800	Weak transcription	Ovary	ovary
15	chr6:37136200-37136800	Active TSS	Thymus	Thymus
16	chr6:37136200-37137000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr6:37136200-37137000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr6:37136200-37137000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:37136200-37137000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:37136200-37137200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:37136400-37136800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr6:37136400-37136800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr6:37136400-37136800	Enhancers	Primary B cells from cord blood	blood
24	chr6:37136400-37136800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr6:37136400-37136800	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr6:37136400-37136800	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr6:37136400-37136800	Enhancers	Placenta Amnion	Placenta Amnion
28	chr6:37136400-37136800	Weak transcription	Right Ventricle	heart
29	chr6:37136400-37137000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr6:37136400-37137000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr6:37136400-37137000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:37136400-37137200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:37136400-37137200	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr6:37136400-37137200	Flanking Active TSS	Fetal Brain Female	brain
35	chr6:37136400-37137400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:37136400-37139000	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr6:37136600-37136800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
38	chr6:37136600-37136800	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr6:37136600-37136800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr6:37136600-37136800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
41	chr6:37136600-37136800	Enhancers	Primary B cells from peripheral blood	blood
42	chr6:37136600-37136800	Enhancers	Primary T cells from cord blood	blood
43	chr6:37136600-37136800	Enhancers	Primary T cells fromperipheralblood	blood
44	chr6:37136600-37136800	Enhancers	Primary hematopoietic stem cells	blood
45	chr6:37136600-37136800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr6:37136600-37136800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr6:37136600-37136800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr6:37136600-37136800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr6:37136600-37136800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr6:37136600-37136800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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