Variant report

Variant	rs262937
Chromosome Location	chr6:37138305-37138306
allele	A/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	ZBTB7A	chr6:37138276-37138994	ECC-1	luminal epithelium:	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	POLR2A	chr6:37137778-37139547	K562	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	YY1	chr6:37136922-37139598	HepG2	liver:	n/a	chr6:37138413-37138433 chr6:37138470-37138479 chr6:37137964-37137975 chr6:37137579-37137589
8	HEY1	chr6:37137773-37139632	K562	blood:	n/a	chr6:37137938-37137953 chr6:37138466-37138481 chr6:37137961-37137976 chr6:37138880-37138895
9	POLR2A	chr6:37136735-37138426	GM19099	blood:	n/a	n/a
10	POLR2A	chr6:37136579-37146396	PBDE	blood:	n/a	n/a
11	POLR2A	chr6:37136637-37145170	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr6:37138160-37138310	SAEC	small airway:	n/a	n/a
13	CTCF	chr6:37138033-37138408	MCF-7	breast:	n/a	n/a
14	MXI1	chr6:37136407-37140568	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr6:37136776-37146030	K562	blood:	n/a	n/a
16	UBTF	chr6:37136830-37142621	K562	blood:	n/a	n/a
17	HCFC1	chr6:37136833-37138658	K562	blood:	n/a	n/a
18	TAF1	chr6:37137070-37139010	K562	blood:	n/a	n/a
19	POLR2A	chr6:37137156-37139077	K562	blood:	n/a	n/a
20	POLR2A	chr6:37135827-37146353	K562	blood:	n/a	n/a
21	JUND	chr6:37136797-37138427	K562	blood:	n/a	chr6:37137161-37137172 chr6:37137284-37137292 chr6:37137287-37137299 chr6:37137549-37137558
22	CTCF	chr6:37137877-37138350	K562	blood:	n/a	n/a
23	ETS1	chr6:37137790-37138747	K562	blood:	n/a	chr6:37138468-37138479
24	POLR2A	chr6:37136787-37138485	GM18505	blood:	n/a	n/a
25	EP300	chr6:37137126-37138473	ECC-1	luminal epithelium:	n/a	n/a
26	CHD1	chr6:37138142-37140204	H1-hESC	embryonic stem cell:	n/a	chr6:37138885-37138895
27	MAX	chr6:37138060-37138910	HepG2	liver:	n/a	chr6:37138443-37138453
28	POLR2A	chr6:37137582-37138365	Gliobla	brain:	n/a	n/a
29	POLR2A	chr6:37136678-37139481	Raji	blood:	n/a	n/a
30	CTCF	chr6:37138300-37138450	BJ	skin:	n/a	n/a
31	CTCF	chr6:37138039-37138324	HepG2	liver:	n/a	n/a
32	REST	chr6:37137787-37138349	K562	blood:	n/a	chr6:37137935-37137948
33	CTCF	chr6:37138040-37138352	GM19238	blood:	n/a	n/a
34	POLR2A	chr6:37137762-37138538	HepG2	liver:	n/a	n/a
35	RCOR1	chr6:37136749-37138402	K562	blood:	n/a	n/a
36	CHD1	chr6:37136448-37141220	IMR90	lung:	n/a	chr6:37137563-37137573 chr6:37137940-37137950 chr6:37137591-37137598 chr6:37138885-37138895
37	HDAC2	chr6:37137827-37138365	K562	blood:	n/a	n/a
38	MAX	chr6:37136856-37139668	A549	lung:	n/a	chr6:37137163-37137172 chr6:37138443-37138453
39	MAX	chr6:37137071-37139555	MCF-7	breast:	n/a	chr6:37137163-37137172 chr6:37138443-37138453
40	POLR2A	chr6:37137801-37145854	K562	blood:	n/a	n/a
41	POLR2A	chr6:37136661-37141160	K562	blood:	n/a	n/a
42	MAX	chr6:37136892-37138403	SK-N-SH	brain:	n/a	chr6:37137163-37137172
43	CHD2	chr6:37136693-37138364	Hela-S3	cervix:	n/a	chr6:37137563-37137573 chr6:37137940-37137950 chr6:37137591-37137598
44	RXRA	chr6:37136935-37138326	SK-N-SH	brain:	n/a	n/a
45	TCF12	chr6:37137166-37138452	ECC-1	luminal epithelium:	n/a	chr6:37138062-37138072
46	TCF7L2	chr6:37137092-37138803	HCT-116	colon:	n/a	chr6:37137467-37137477 chr6:37137466-37137475
47	EBF1	chr6:37138018-37138388	GM12878	blood:	n/a	n/a
48	POLR2A	chr6:37136952-37139351	GM12892	blood:	n/a	n/a
49	POLR2A	chr6:37137799-37138380	GM10847	blood:	n/a	n/a
50	POLR2A	chr6:37137693-37138495	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:74700266..74700841-chr6:37138061..37138960,2	Hela-S3	cervix:
2	chr6:37018618..37019781-chr6:37138024..37138822,3	MCF-7	breast:
3	chr6:37138215..37139821-chr6:37175496..37177561,2	MCF-7	breast:
4	chr6:36989173..36991551-chr6:37137394..37139647,3	K562	blood:
5	chr6:36952261..36954341-chr6:37137585..37140214,3	K562	blood:
6	chr6:36984736..36987348-chr6:37138212..37139729,2	K562	blood:
7	chr6:37138226..37140193-chr6:37227015..37228524,2	K562	blood:

Variant related genes	Relation type
PIM1	TF binding region
ENSG00000146192	Chromatin interaction
ENSG00000137409	Chromatin interaction
ENSG00000168411	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs262926	0.94[AFR][1000 genomes]
rs262930	0.94[AFR][1000 genomes]
rs262934	0.94[AFR][1000 genomes]
rs2788080	0.94[AFR][1000 genomes]
rs6919051	1.00[AMR][1000 genomes]
rs6940883	1.00[AMR][1000 genomes]
rs73414002	1.00[AMR][1000 genomes]
rs7744585	1.00[AMR][1000 genomes]
rs9462274	1.00[AMR][1000 genomes]
rs9462275	1.00[AMR][1000 genomes]
rs9462276	1.00[AMR][1000 genomes]
rs9462286	1.00[AMR][1000 genomes]
rs9470503	1.00[AMR][1000 genomes]
rs9470504	1.00[AMR][1000 genomes]
rs9470506	1.00[AMR][1000 genomes]
rs9470508	1.00[AMR][1000 genomes]
rs9470510	1.00[AMR][1000 genomes]
rs9470511	1.00[AMR][1000 genomes]
rs9470512	1.00[AMR][1000 genomes]
rs9470525	1.00[AMR][1000 genomes]
rs9470526	1.00[AMR][1000 genomes]
rs9470538	1.00[AMR][1000 genomes]
rs9470539	1.00[AMR][1000 genomes]

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	chr6:37136000-37139800	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr6:37136400-37139000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr6:37136600-37138400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr6:37136600-37140200	Active TSS	H9 Cell Line	embryonic stem cell
5	chr6:37136600-37140200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:37136600-37140200	Active TSS	Aorta	Aorta
7	chr6:37136600-37140600	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr6:37136800-37139000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:37136800-37139000	Active TSS	Right Ventricle	heart
10	chr6:37136800-37139000	Active TSS	A549	lung
11	chr6:37136800-37139800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr6:37136800-37139800	Active TSS	Gastric	stomach
13	chr6:37136800-37140200	Active TSS	H1 Cell Line	embryonic stem cell
14	chr6:37136800-37140200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:37136800-37140200	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr6:37136800-37140200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr6:37136800-37140200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:37136800-37140200	Active TSS	Esophagus	oesophagus
19	chr6:37136800-37140200	Active TSS	Left Ventricle	heart
20	chr6:37136800-37140200	Active TSS	Lung	lung
21	chr6:37136800-37140400	Active TSS	Psoas Muscle	Psoas
22	chr6:37136800-37140800	Active TSS	Ovary	ovary
23	chr6:37137000-37138400	Active TSS	Stomach Smooth Muscle	stomach
24	chr6:37137000-37138600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:37137000-37138800	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr6:37137000-37138800	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr6:37137000-37138800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr6:37137000-37138800	Active TSS	Brain Hippocampus Middle	brain
29	chr6:37137000-37138800	Active TSS	Fetal Stomach	stomach
30	chr6:37137000-37138800	Active TSS	NHLF	lung
31	chr6:37137000-37138800	Active TSS	Osteobl	bone
32	chr6:37137000-37139000	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr6:37137000-37139000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:37137000-37139000	Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr6:37137000-37139000	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr6:37137000-37139600	Active TSS	Brain Angular Gyrus	brain
37	chr6:37137000-37139800	Active TSS	Brain Cingulate Gyrus	brain
38	chr6:37137000-37140200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:37137000-37140200	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr6:37137000-37140200	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr6:37137000-37140200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr6:37137000-37140200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr6:37137000-37140200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:37137000-37140200	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr6:37137000-37140200	Active TSS	Liver	Liver
46	chr6:37137000-37140200	Active TSS	Brain Anterior Caudate	brain
47	chr6:37137000-37140200	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr6:37137000-37140200	Active TSS	Colon Smooth Muscle	Colon
49	chr6:37137000-37140200	Active TSS	Fetal Kidney	kidney
50	chr6:37137000-37140200	Active TSS	Rectal Smooth Muscle	rectum

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