Variant report

Variant	rs6939224
Chromosome Location	chr6:37137172-37137173
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	POLR2A	chr6:37136826-37137555	Gliobla	brain:	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	TAF1	chr6:37136756-37138824	K562	blood:	n/a	n/a
6	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
7	CREB1	chr6:37137096-37137892	H1-hESC	embryonic stem cell:	n/a	n/a
8	YY1	chr6:37136922-37139598	HepG2	liver:	n/a	chr6:37138413-37138433 chr6:37138470-37138479 chr6:37137964-37137975 chr6:37137579-37137589
9	ZNF263	chr6:37136798-37137689	HEK293-T-REx	kidney:	n/a	chr6:37137520-37137529
10	CHD2	chr6:37136886-37137874	GM12878	blood:	n/a	chr6:37137563-37137573 chr6:37137591-37137598
11	POLR2A	chr6:37136735-37138426	GM19099	blood:	n/a	n/a
12	POLR2A	chr6:37136927-37137184	SK-N-SH	brain:	n/a	n/a
13	FOXM1	chr6:37137029-37137966	ECC-1	luminal epithelium:	n/a	n/a
14	MYBL2	chr6:37136616-37137894	HepG2	liver:	n/a	n/a
15	YY1	chr6:37136852-37137189	K562	blood:	n/a	n/a
16	POLR2A	chr6:37136579-37146396	PBDE	blood:	n/a	n/a
17	MAFK	chr6:37136982-37137415	HepG2	liver:	n/a	n/a
18	POLR2A	chr6:37136637-37145170	Hela-S3	cervix:	n/a	n/a
19	MAX	chr6:37136965-37138038	A549	lung:	n/a	chr6:37137163-37137172
20	RAD21	chr6:37136841-37137652	H1-hESC	embryonic stem cell:	n/a	chr6:37137226-37137236 chr6:37137605-37137619 chr6:37137452-37137465
21	MXI1	chr6:37136407-37140568	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr6:37136776-37146030	K562	blood:	n/a	n/a
23	UBTF	chr6:37136830-37142621	K562	blood:	n/a	n/a
24	HCFC1	chr6:37136833-37138658	K562	blood:	n/a	n/a
25	TAF1	chr6:37137070-37139010	K562	blood:	n/a	n/a
26	POLR2A	chr6:37137156-37139077	K562	blood:	n/a	n/a
27	POLR2A	chr6:37135827-37146353	K562	blood:	n/a	n/a
28	JUND	chr6:37136797-37138427	K562	blood:	n/a	chr6:37137161-37137172 chr6:37137284-37137292 chr6:37137287-37137299 chr6:37137549-37137558
29	POLR2A	chr6:37136787-37138485	GM18505	blood:	n/a	n/a
30	EP300	chr6:37137126-37138473	ECC-1	luminal epithelium:	n/a	n/a
31	RAD21	chr6:37136893-37137563	Hela-S3	cervix:	n/a	chr6:37137226-37137236 chr6:37137452-37137465
32	TAF7	chr6:37136702-37137654	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr6:37136678-37139481	Raji	blood:	n/a	n/a
34	CHD2	chr6:37136922-37138059	HepG2	liver:	n/a	chr6:37137563-37137573 chr6:37137940-37137950 chr6:37137591-37137598
35	POLR2A	chr6:37136673-37137634	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr6:37136735-37137481	HepG2	liver:	n/a	n/a
37	JUN	chr6:37137088-37138121	K562	blood:	n/a	chr6:37137284-37137292 chr6:37137287-37137299 chr6:37137549-37137558
38	RCOR1	chr6:37136749-37138402	K562	blood:	n/a	n/a
39	RELA	chr6:37136728-37137579	GM15510	blood:	n/a	chr6:37136755-37136764 chr6:37136755-37136764
40	CHD1	chr6:37136448-37141220	IMR90	lung:	n/a	chr6:37137563-37137573 chr6:37137940-37137950 chr6:37137591-37137598 chr6:37138885-37138895
41	PBX3	chr6:37136745-37138156	SK-N-SH	brain:	n/a	n/a
42	FOXA1	chr6:37136916-37138195	HepG2	liver:	n/a	n/a
43	MAX	chr6:37136856-37139668	A549	lung:	n/a	chr6:37137163-37137172 chr6:37138443-37138453
44	MAX	chr6:37137071-37139555	MCF-7	breast:	n/a	chr6:37137163-37137172 chr6:37138443-37138453
45	MAX	chr6:37136714-37138165	Hela-S3	cervix:	n/a	chr6:37136825-37136834 chr6:37137163-37137172 chr6:37136748-37136758
46	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
47	POLR2A	chr6:37136764-37137665	U87	brain:	n/a	n/a
48	RAD21	chr6:37136840-37138053	SK-N-SH_RA	brain:	n/a	chr6:37137226-37137236 chr6:37137605-37137619 chr6:37137452-37137465
49	MAX	chr6:37136844-37137738	A549	lung:	n/a	chr6:37137163-37137172
50	POLR2A	chr6:37137132-37137617	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:110166877..110167627-chr6:37137088..37137655,2	Hela-S3	cervix:
2	chr3:148943029..148943740-chr6:37136791..37137329,2	Hela-S3	cervix:
3	chr2:201754063..201754563-chr6:37136960..37137461,2	NB4	blood:
4	chr11:62609122..62609646-chr6:37137134..37137644,2	Hela-S3	cervix:
5	chr15:65596619..65597760-chr6:37136409..37137556,3	Hela-S3	cervix:
6	chr6:37058109..37060738-chr6:37135509..37137809,2	MCF-7	breast:
7	chr6:26026812..26027344-chr6:37137111..37137790,2	Hela-S3	cervix:
8	chr16:284670..285320-chr6:37136805..37137480,2	Hela-S3	cervix:
9	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
ENSG00000137710	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000167930	Chromatin interaction
ENSG00000196290	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37129000-37137200	Weak transcription	Small Intestine	intestine
2	chr6:37135800-37137400	Enhancers	Fetal Heart	heart
3	chr6:37136000-37137200	Flanking Active TSS	K562	blood
4	chr6:37136000-37137400	Enhancers	Spleen	Spleen
5	chr6:37136000-37139800	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr6:37136200-37137200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:37136400-37137200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:37136400-37137200	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr6:37136400-37137200	Flanking Active TSS	Fetal Brain Female	brain
10	chr6:37136400-37137400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:37136400-37139000	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr6:37136600-37137200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr6:37136600-37137200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
14	chr6:37136600-37137200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr6:37136600-37137200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr6:37136600-37137200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
17	chr6:37136600-37137200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:37136600-37137200	Flanking Active TSS	Brain Substantia Nigra	brain
19	chr6:37136600-37137200	Flanking Active TSS	Colonic Mucosa	Colon
20	chr6:37136600-37137200	Flanking Active TSS	Fetal Lung	lung
21	chr6:37136600-37137200	Flanking Active TSS	Fetal Muscle Leg	muscle
22	chr6:37136600-37137200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr6:37136600-37137200	Flanking Active TSS	Stomach Mucosa	stomach
24	chr6:37136600-37137200	Flanking Active TSS	Dnd41	blood
25	chr6:37136600-37137200	Flanking Active TSS	GM12878-XiMat	blood
26	chr6:37136600-37137200	Flanking Active TSS	Hela-S3	cervix
27	chr6:37136600-37137200	Flanking Bivalent TSS/Enh	HepG2	liver
28	chr6:37136600-37137200	Flanking Active TSS	HSMM	muscle
29	chr6:37136600-37137200	Flanking Active TSS	HSMMtube	muscle
30	chr6:37136600-37137200	Flanking Active TSS	HUVEC	blood vessel
31	chr6:37136600-37137400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr6:37136600-37137400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr6:37136600-37137400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:37136600-37137400	Flanking Active TSS	Fetal Intestine Small	intestine
35	chr6:37136600-37137400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
36	chr6:37136600-37137400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
37	chr6:37136600-37137600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr6:37136600-37138200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr6:37136600-37138400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr6:37136600-37140200	Active TSS	H9 Cell Line	embryonic stem cell
41	chr6:37136600-37140200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr6:37136600-37140200	Active TSS	Aorta	Aorta
43	chr6:37136600-37140600	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr6:37136800-37137200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr6:37136800-37137200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
46	chr6:37136800-37137200	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr6:37136800-37137200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr6:37136800-37137200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr6:37136800-37137200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr6:37136800-37137200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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