Variant report

Variant	rs113179799
Chromosome Location	chr6:37137235-37137236
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	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	USF2	chr6:37137224-37137421	GM12878	blood:	n/a	n/a
7	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
8	CREB1	chr6:37137096-37137892	H1-hESC	embryonic stem cell:	n/a	n/a
9	YY1	chr6:37136922-37139598	HepG2	liver:	n/a	chr6:37138413-37138433 chr6:37138470-37138479 chr6:37137964-37137975 chr6:37137579-37137589
10	FOXA1	chr6:37137234-37137713	HepG2	liver:	n/a	n/a
11	ZNF263	chr6:37136798-37137689	HEK293-T-REx	kidney:	n/a	chr6:37137520-37137529
12	CHD2	chr6:37136886-37137874	GM12878	blood:	n/a	chr6:37137563-37137573 chr6:37137591-37137598
13	POLR2A	chr6:37136735-37138426	GM19099	blood:	n/a	n/a
14	FOXM1	chr6:37137029-37137966	ECC-1	luminal epithelium:	n/a	n/a
15	MYBL2	chr6:37136616-37137894	HepG2	liver:	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	POLR2A	chr6:37137208-37137525	SK-N-SH	brain:	n/a	n/a
24	UBTF	chr6:37136830-37142621	K562	blood:	n/a	n/a
25	HCFC1	chr6:37136833-37138658	K562	blood:	n/a	n/a
26	TAF1	chr6:37137070-37139010	K562	blood:	n/a	n/a
27	POLR2A	chr6:37137156-37139077	K562	blood:	n/a	n/a
28	POLR2A	chr6:37135827-37146353	K562	blood:	n/a	n/a
29	JUND	chr6:37136797-37138427	K562	blood:	n/a	chr6:37137161-37137172 chr6:37137284-37137292 chr6:37137287-37137299 chr6:37137549-37137558
30	EP300	chr6:37137218-37138071	H1-hESC	embryonic stem cell:	n/a	n/a
31	YY1	chr6:37137206-37137659	H1-hESC	embryonic stem cell:	n/a	chr6:37137579-37137589
32	POLR2A	chr6:37136787-37138485	GM18505	blood:	n/a	n/a
33	EP300	chr6:37137126-37138473	ECC-1	luminal epithelium:	n/a	n/a
34	RAD21	chr6:37136893-37137563	Hela-S3	cervix:	n/a	chr6:37137226-37137236 chr6:37137452-37137465
35	TAF7	chr6:37136702-37137654	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPB	chr6:37137207-37137605	HepG2	liver:	n/a	n/a
37	POLR2A	chr6:37136678-37139481	Raji	blood:	n/a	n/a
38	CHD2	chr6:37136922-37138059	HepG2	liver:	n/a	chr6:37137563-37137573 chr6:37137940-37137950 chr6:37137591-37137598
39	POLR2A	chr6:37136673-37137634	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr6:37136735-37137481	HepG2	liver:	n/a	n/a
41	MAFK	chr6:37137208-37137694	Hela-S3	cervix:	n/a	n/a
42	JUN	chr6:37137088-37138121	K562	blood:	n/a	chr6:37137284-37137292 chr6:37137287-37137299 chr6:37137549-37137558
43	RCOR1	chr6:37136749-37138402	K562	blood:	n/a	n/a
44	RELA	chr6:37136728-37137579	GM15510	blood:	n/a	chr6:37136755-37136764 chr6:37136755-37136764
45	CHD1	chr6:37136448-37141220	IMR90	lung:	n/a	chr6:37137563-37137573 chr6:37137940-37137950 chr6:37137591-37137598 chr6:37138885-37138895
46	NR2F2	chr6:37137223-37137632	K562	blood:	n/a	n/a
47	PBX3	chr6:37136745-37138156	SK-N-SH	brain:	n/a	n/a
48	FOXA1	chr6:37136916-37138195	HepG2	liver:	n/a	n/a
49	MAX	chr6:37136856-37139668	A549	lung:	n/a	chr6:37137163-37137172 chr6:37138443-37138453
50	MAX	chr6:37137071-37139555	MCF-7	breast:	n/a	chr6:37137163-37137172 chr6:37138443-37138453

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:37137227-37137277	K562	blood:	n/a
2	chr6:37137227-37137277	BJ	skin:	n/a
3	chr6:37137227-37137277	HPAEpiC	pulmonary alveolar:	n/a
4	chr6:37137227-37137277	PFSK-1	brain:	n/a
5	chr6:37137227-37137277	Jurkat	blood:	n/a
6	chr6:37137227-37137277	SK-N-SH	brain:	n/a
7	chr6:37137227-37137277	GM12892	blood:	n/a
8	chr6:37137227-37137277	SAEC	small airway:	n/a
9	chr6:37137227-37137277	H1-hESC	embryonic stem cell:	embryo
10	chr6:37137227-37137277	IMR90	lung:	fetal
11	chr6:37137227-37137277	T-47D	breast:	n/a
12	chr6:37137227-37137277	HAEpiC	amniotic membrane:	n/a
13	chr6:37137227-37137277	HRCEpiC	kidney:	n/a
14	chr6:37137227-37137277	SK-N-SH_RA	brain:	n/a
15	chr6:37137227-37137277	HCT-116	colon:	n/a
16	chr6:37137227-37137277	GM19239	blood:	n/a
17	chr6:37137227-37137277	PANC-1	pancreas:	n/a
18	chr6:37137227-37137277	SKMC	muscle:	n/a
19	chr6:37137227-37137277	AG09319	gingival:	n/a
20	chr6:37137227-37137277	NB4	blood:	n/a
21	chr6:37137227-37137277	RPTEC	kidney:	n/a
22	chr6:37137227-37137277	MCF-7	breast:	n/a
23	chr6:37137227-37137277	ovcar-3	ovarian:	n/a
24	chr6:37137227-37137277	AG04449	skin:	fetal
25	chr6:37137227-37137277	GM06990	blood:	n/a
26	chr6:37137227-37137277	A549	lung:	n/a
27	chr6:37137227-37137277	NHDF-neo	bronchial:	n/a
28	chr6:37137227-37137277	GM12878	blood:	n/a
29	chr6:37137227-37137277	HL-60	blood:	n/a
30	chr6:37137227-37137277	HepG2	liver:	n/a
31	chr6:37137227-37137277	GM12891	blood:	n/a
32	chr6:37137227-37137277	LNCaP	prostate:	n/a
33	chr6:37137227-37137277	U87	brain:	n/a
34	chr6:37137227-37137277	HIPEpiC	eye:	n/a
35	chr6:37137227-37137277	AG09309	skin:	n/a
36	chr6:37137227-37137277	Hela-S3	cervix:	n/a
37	chr6:37137227-37137277	HNPCEpiC	eye:	n/a
38	chr6:37137227-37137277	NT2-D1	testis:	n/a
39	chr6:37137227-37137277	NH-A	brain:	n/a
40	chr6:37137227-37137277	AG10803	skin:	n/a
41	chr6:37137227-37137277	MCF10A-Er-Src	breast:	n/a
42	chr6:37137227-37137277	Hepatocyte	liver:	n/a
43	chr6:37137227-37137277	HUVEC	blood vessel:	n/a
44	chr6:37137227-37137277	BE2_C	brain:	n/a
45	chr6:37137227-37137277	HRE	kidney:	n/a
46	chr6:37137227-37137277	Caco-2	colon:	n/a
47	chr6:37137227-37137277	CMK	blood:	n/a
48	chr6:37137227-37137277	SK-N-MC	brain:	n/a
49	chr6:37137227-37137277	HRPEpiC	eye:	n/a
50	chr6:37137227-37137277	HEEpiC	esophagus:	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
PIM1	CpG island
ENSG00000200156	Chromatin interaction
ENSG00000137710	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000196290	Chromatin interaction
ENSG00000216412	Chromatin interaction
ENSG00000167930	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	chr6:37135800-37137400	Enhancers	Fetal Heart	heart
2	chr6:37136000-37137400	Enhancers	Spleen	Spleen
3	chr6:37136000-37139800	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr6:37136400-37137400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:37136400-37139000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr6:37136600-37137400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
7	chr6:37136600-37137400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr6:37136600-37137400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr6:37136600-37137400	Flanking Active TSS	Fetal Intestine Small	intestine
10	chr6:37136600-37137400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
11	chr6:37136600-37137400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
12	chr6:37136600-37137600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr6:37136600-37138200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:37136600-37138400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr6:37136600-37140200	Active TSS	H9 Cell Line	embryonic stem cell
16	chr6:37136600-37140200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:37136600-37140200	Active TSS	Aorta	Aorta
18	chr6:37136600-37140600	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr6:37136800-37137400	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr6:37136800-37137400	Flanking Active TSS	Primary B cells from peripheral blood	blood
21	chr6:37136800-37137400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
22	chr6:37136800-37137400	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr6:37136800-37137400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr6:37136800-37137400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:37136800-37137400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr6:37136800-37137400	Flanking Active TSS	Fetal Muscle Trunk	muscle
27	chr6:37136800-37137400	Flanking Active TSS	Thymus	Thymus
28	chr6:37136800-37137400	Flanking Active TSS	HMEC	breast
29	chr6:37136800-37137600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr6:37136800-37138000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr6:37136800-37138000	Active TSS	Brain Germinal Matrix	brain
32	chr6:37136800-37138200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr6:37136800-37138200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr6:37136800-37139000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr6:37136800-37139000	Active TSS	Right Ventricle	heart
36	chr6:37136800-37139000	Active TSS	A549	lung
37	chr6:37136800-37139800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr6:37136800-37139800	Active TSS	Gastric	stomach
39	chr6:37136800-37140200	Active TSS	H1 Cell Line	embryonic stem cell
40	chr6:37136800-37140200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:37136800-37140200	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr6:37136800-37140200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr6:37136800-37140200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr6:37136800-37140200	Active TSS	Esophagus	oesophagus
45	chr6:37136800-37140200	Active TSS	Left Ventricle	heart
46	chr6:37136800-37140200	Active TSS	Lung	lung
47	chr6:37136800-37140400	Active TSS	Psoas Muscle	Psoas
48	chr6:37136800-37140800	Active TSS	Ovary	ovary
49	chr6:37137000-37137400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr6:37137000-37137400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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