Variant report

Variant	rs73415823
Chromosome Location	chr6:37136910-37136911
allele	C/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	STAT3	chr6:37136778-37137156	MCF10A-Er-Src	breast:	n/a	chr6:37137001-37137009 chr6:37136995-37137015 chr6:37136999-37137010 chr6:37136993-37137005 chr6:37136895-37136903
5	MTA3	chr6:37136526-37137622	GM12878	blood:	n/a	n/a
6	TAF1	chr6:37136756-37138824	K562	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	ZNF263	chr6:37136798-37137689	HEK293-T-REx	kidney:	n/a	chr6:37137520-37137529
9	CHD2	chr6:37136886-37137874	GM12878	blood:	n/a	chr6:37137563-37137573 chr6:37137591-37137598
10	POLR2A	chr6:37136735-37138426	GM19099	blood:	n/a	n/a
11	MYBL2	chr6:37136616-37137894	HepG2	liver:	n/a	n/a
12	YY1	chr6:37136852-37137189	K562	blood:	n/a	n/a
13	POLR2A	chr6:37136579-37146396	PBDE	blood:	n/a	n/a
14	MAFF	chr6:37136748-37137056	K562	blood:	n/a	chr6:37136921-37136939
15	POLR2A	chr6:37136637-37145170	Hela-S3	cervix:	n/a	n/a
16	RAD21	chr6:37136841-37137652	H1-hESC	embryonic stem cell:	n/a	chr6:37137226-37137236 chr6:37137605-37137619 chr6:37137452-37137465
17	MXI1	chr6:37136407-37140568	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr6:37136776-37146030	K562	blood:	n/a	n/a
19	UBTF	chr6:37136830-37142621	K562	blood:	n/a	n/a
20	HCFC1	chr6:37136833-37138658	K562	blood:	n/a	n/a
21	POLR2A	chr6:37135827-37146353	K562	blood:	n/a	n/a
22	JUND	chr6:37136797-37138427	K562	blood:	n/a	chr6:37137161-37137172 chr6:37137284-37137292 chr6:37137287-37137299 chr6:37137549-37137558
23	ARID3A	chr6:37136744-37137110	K562	blood:	n/a	n/a
24	POLR2A	chr6:37136787-37138485	GM18505	blood:	n/a	n/a
25	RAD21	chr6:37136893-37137563	Hela-S3	cervix:	n/a	chr6:37137226-37137236 chr6:37137452-37137465
26	TAF7	chr6:37136702-37137654	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr6:37136678-37139481	Raji	blood:	n/a	n/a
28	POLR2A	chr6:37136673-37137634	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr6:37136735-37137481	HepG2	liver:	n/a	n/a
30	RCOR1	chr6:37136749-37138402	K562	blood:	n/a	n/a
31	RELA	chr6:37136728-37137579	GM15510	blood:	n/a	chr6:37136755-37136764 chr6:37136755-37136764
32	MAFK	chr6:37136863-37137077	HepG2	liver:	n/a	chr6:37136917-37136937
33	CHD1	chr6:37136448-37141220	IMR90	lung:	n/a	chr6:37137563-37137573 chr6:37137940-37137950 chr6:37137591-37137598 chr6:37138885-37138895
34	PBX3	chr6:37136745-37138156	SK-N-SH	brain:	n/a	n/a
35	MAX	chr6:37136856-37139668	A549	lung:	n/a	chr6:37137163-37137172 chr6:37138443-37138453
36	MAX	chr6:37136714-37138165	Hela-S3	cervix:	n/a	chr6:37136825-37136834 chr6:37137163-37137172 chr6:37136748-37136758
37	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
38	POLR2A	chr6:37136764-37137665	U87	brain:	n/a	n/a
39	RAD21	chr6:37136840-37138053	SK-N-SH_RA	brain:	n/a	chr6:37137226-37137236 chr6:37137605-37137619 chr6:37137452-37137465
40	MAX	chr6:37136844-37137738	A549	lung:	n/a	chr6:37137163-37137172
41	POLR2A	chr6:37136661-37141160	K562	blood:	n/a	n/a
42	E2F6	chr6:37136855-37138297	K562	blood:	n/a	chr6:37137584-37137601 chr6:37137586-37137595 chr6:37137587-37137598 chr6:37137600-37137612 chr6:37137583-37137597 chr6:37137591-37137598 chr6:37137587-37137594 chr6:37137099-37137106 chr6:37137586-37137594 chr6:37137584-37137601 chr6:37137491-37137500 chr6:37137587-37137598 chr6:37137544-37137555 chr6:37137584-37137601 chr6:37137587-37137598 chr6:37137587-37137598 chr6:37137099-37137106 chr6:37136900-37136912 chr6:37137099-37137106
43	MAX	chr6:37136892-37138403	SK-N-SH	brain:	n/a	chr6:37137163-37137172
44	CHD2	chr6:37136693-37138364	Hela-S3	cervix:	n/a	chr6:37137563-37137573 chr6:37137940-37137950 chr6:37137591-37137598
45	HA-E2F1	chr6:37136849-37137687	MCF-7	breast:	n/a	chr6:37137584-37137601 chr6:37137586-37137595 chr6:37137600-37137611 chr6:37137587-37137598 chr6:37137600-37137612 chr6:37137583-37137597 chr6:37137545-37137556 chr6:37137591-37137598 chr6:37137586-37137597 chr6:37137587-37137594 chr6:37137099-37137106 chr6:37137584-37137601 chr6:37137491-37137500 chr6:37137587-37137598 chr6:37137584-37137601 chr6:37137587-37137598 chr6:37137587-37137598 chr6:37137099-37137106 chr6:37136900-37136912 chr6:37137099-37137106
46	SMARCB1	chr6:37136741-37137617	Hela-S3	cervix:	n/a	chr6:37137284-37137293
47	SMC3	chr6:37135928-37140659	SK-N-SH	brain:	n/a	chr6:37140122-37140136 chr6:37139751-37139758 chr6:37137226-37137236 chr6:37140122-37140132
48	MBD4	chr6:37136568-37137688	HepG2	liver:	n/a	n/a
49	ZBTB7A	chr6:37136650-37137785	K562	blood:	n/a	n/a
50	MXI1	chr6:37136831-37137927	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:148943029..148943740-chr6:37136791..37137329,2	Hela-S3	cervix:
2	chr15:65596619..65597760-chr6:37136409..37137556,3	Hela-S3	cervix:
3	chr6:37058109..37060738-chr6:37135509..37137809,2	MCF-7	breast:
4	chr6:37105482..37108115-chr6:37135439..37137000,2	K562	blood:
5	chr16:284670..285320-chr6:37136805..37137480,2	Hela-S3	cervix:
6	chr6:37121872..37123647-chr6:37135726..37137977,2	MCF-7	breast:

Variant related genes	Relation type
PIM1	TF binding region
ENSG00000200156	Chromatin interaction
ENSG00000216412	Chromatin interaction
ENSG00000167930	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs57187090	1.00[AFR][1000 genomes]
rs59075959	0.93[AFR][1000 genomes]
rs6913952	0.87[AFR][1000 genomes]
rs73415838	0.87[AFR][1000 genomes]
rs73415867	0.86[AFR][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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37123600-37137000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:37129000-37137200	Weak transcription	Small Intestine	intestine
3	chr6:37135800-37137400	Enhancers	Fetal Heart	heart
4	chr6:37136000-37137000	Flanking Active TSS	NHDF-Ad	bronchial
5	chr6:37136000-37137200	Flanking Active TSS	K562	blood
6	chr6:37136000-37137400	Enhancers	Spleen	Spleen
7	chr6:37136000-37139800	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr6:37136200-37137000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr6:37136200-37137000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr6:37136200-37137000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:37136200-37137000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:37136200-37137200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:37136400-37137000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr6:37136400-37137000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr6:37136400-37137000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:37136400-37137200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:37136400-37137200	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr6:37136400-37137200	Flanking Active TSS	Fetal Brain Female	brain
19	chr6:37136400-37137400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:37136400-37139000	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr6:37136600-37137000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:37136600-37137000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:37136600-37137000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr6:37136600-37137000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:37136600-37137000	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr6:37136600-37137000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr6:37136600-37137000	Flanking Active TSS	Liver	Liver
28	chr6:37136600-37137000	Flanking Active TSS	Brain Anterior Caudate	brain
29	chr6:37136600-37137000	Flanking Active TSS	Brain Hippocampus Middle	brain
30	chr6:37136600-37137000	Flanking Active TSS	Colon Smooth Muscle	Colon
31	chr6:37136600-37137000	Flanking Active TSS	Fetal Brain Male	brain
32	chr6:37136600-37137000	Flanking Active TSS	Fetal Intestine Large	intestine
33	chr6:37136600-37137000	Flanking Active TSS	Fetal Kidney	kidney
34	chr6:37136600-37137000	Flanking Active TSS	Fetal Stomach	stomach
35	chr6:37136600-37137000	Flanking Active TSS	Rectal Smooth Muscle	rectum
36	chr6:37136600-37137000	Active TSS	Right Atrium	heart
37	chr6:37136600-37137000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr6:37136600-37137000	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr6:37136600-37137000	Flanking Active TSS	NH-A	brain
40	chr6:37136600-37137000	Flanking Active TSS	NHLF	lung
41	chr6:37136600-37137000	Flanking Active TSS	Osteobl	bone
42	chr6:37136600-37137200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr6:37136600-37137200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
44	chr6:37136600-37137200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr6:37136600-37137200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr6:37136600-37137200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr6:37136600-37137200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr6:37136600-37137200	Flanking Active TSS	Brain Substantia Nigra	brain
49	chr6:37136600-37137200	Flanking Active TSS	Colonic Mucosa	Colon
50	chr6:37136600-37137200	Flanking Active TSS	Fetal Lung	lung

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