Variant report

Variant	rs9496650
Chromosome Location	chr6:143832826-143832827
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	MYC	chr6:143832264-143833063	HepG2	liver:	n/a	chr6:143832807-143832817
2	GTF2F1	chr6:143832151-143833101	K562	blood:	n/a	n/a
3	CTCF	chr6:143832740-143832890	GM12870	blood:	n/a	n/a
4	POLR2A	chr6:143832263-143833023	IMR90	lung:	n/a	n/a
5	SETDB1	chr6:143832151-143833405	U2OS	brain:	n/a	n/a
6	YY1	chr6:143832559-143832934	GM12892	blood:	n/a	n/a
7	HEY1	chr6:143832067-143833207	HepG2	liver:	n/a	n/a
8	MBD4	chr6:143831885-143833217	HepG2	liver:	n/a	n/a
9	MXI1	chr6:143832092-143833083	GM12878	blood:	n/a	n/a
10	USF1	chr6:143832384-143833095	SK-N-SH	brain:	n/a	n/a
11	CTCF	chr6:143832720-143832870	SAEC	small airway:	n/a	n/a
12	POLR2A	chr6:143832080-143833122	GM18951	blood:	n/a	n/a
13	REST	chr6:143832215-143833143	HepG2	liver:	n/a	chr6:143833023-143833032 chr6:143832452-143832462 chr6:143832821-143832828 chr6:143832856-143832869
14	BCLAF1	chr6:143832106-143833100	GM12878	blood:	n/a	chr6:143832494-143832507 chr6:143832395-143832404
15	MYBL2	chr6:143831999-143833174	HepG2	liver:	n/a	n/a
16	ATF2	chr6:143832658-143833106	H1-hESC	embryonic stem cell:	n/a	n/a
17	SIN3A	chr6:143832144-143833230	H1-hESC	embryonic stem cell:	n/a	chr6:143832452-143832461
18	POLR2A	chr6:143832076-143833323	K562	blood:	n/a	n/a
19	MAFK	chr6:143832068-143833175	K562	blood:	n/a	chr6:143832968-143832979 chr6:143832963-143832978
20	CTCF	chr6:143832740-143832890	SAEC	small airway:	n/a	n/a
21	MYC	chr6:143831941-143833312	K562	blood:	n/a	chr6:143832807-143832817
22	CTCF	chr6:143832820-143832970	HEK293	kidney:	n/a	n/a
23	CEBPB	chr6:143832792-143833087	Hela-S3	cervix:	n/a	n/a
24	NFIC	chr6:143832022-143833179	ECC-1	luminal epithelium:	n/a	n/a
25	TAF1	chr6:143832163-143833057	ECC-1	luminal epithelium:	n/a	n/a
26	EBF1	chr6:143832290-143832868	GM12878	blood:	n/a	n/a
27	YY1	chr6:143832254-143833016	ECC-1	luminal epithelium:	n/a	n/a
28	MYBL2	chr6:143831886-143833332	HepG2	liver:	n/a	n/a
29	POLR2A	chr6:143832054-143833172	Hela-S3	cervix:	n/a	n/a
30	ARID3A	chr6:143832778-143833044	K562	blood:	n/a	n/a
31	POLR2A	chr6:143832088-143833263	K562	blood:	n/a	n/a
32	CTCF	chr6:143832780-143832930	HRPEpiC	eye:	n/a	n/a
33	TCF12	chr6:143832627-143833049	H1-hESC	embryonic stem cell:	n/a	chr6:143833000-143833007
34	SMC3	chr6:143832107-143833073	Hela-S3	cervix:	n/a	n/a
35	E2F6	chr6:143832212-143833111	A549	lung:	n/a	n/a
36	POLR2A	chr6:143832214-143833027	HepG2	liver:	n/a	n/a
37	YY1	chr6:143832732-143833004	A549	lung:	n/a	n/a
38	USF1	chr6:143832712-143833044	A549	lung:	n/a	n/a
39	YY1	chr6:143832533-143833125	H1-hESC	embryonic stem cell:	n/a	n/a
40	IRF1	chr6:143832066-143833177	K562	blood:	n/a	chr6:143832067-143832076
41	EGR1	chr6:143832724-143833093	K562	blood:	n/a	n/a
42	POLR2A	chr6:143832084-143833202	K562	blood:	n/a	n/a
43	CTCF	chr6:143832740-143832890	K562	blood:	n/a	n/a
44	POLR2A	chr6:143832211-143833198	H1-hESC	embryonic stem cell:	n/a	n/a
45	MYC	chr6:143832309-143832880	Hela-S3	cervix:	n/a	chr6:143832807-143832817
46	UBTF	chr6:143832108-143833330	K562	blood:	n/a	n/a
47	RFX5	chr6:143832388-143833033	GM12878	blood:	n/a	n/a
48	ETS1	chr6:143832064-143833129	K562	blood:	n/a	chr6:143832395-143832404 chr6:143832892-143832905 chr6:143832395-143832406 chr6:143832396-143832406 chr6:143832395-143832404
49	TAF1	chr6:143832245-143833209	K562	blood:	n/a	n/a
50	POLR2A	chr6:143832294-143833268	GM18526	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:143830223..143833460-chr6:143856589..143859655,5	MCF-7	breast:
2	chr20:10654328..10654888-chr6:143832321..143833110,2	HCT-116	colon:
3	chr6:143381342..143383522-chr6:143831139..143832827,2	K562	blood:
4	chr6:143770816..143772927-chr6:143831000..143833550,2	MCF-7	breast:
5	chr6:143821189..143823852-chr6:143831025..143833660,2	MCF-7	breast:
6	chr6:143829496..143838775-chr6:143854591..143861568,17	MCF-7	breast:
7	chr6:143830620..143833385-chr6:144127423..144130418,2	K562	blood:
8	chr6:143769666..143773987-chr6:143831101..143834872,5	MCF-7	breast:
9	chr6:143770206..143773921-chr6:143828795..143834716,12	K562	blood:
10	chr6:143830342..143833743-chr6:144326901..144329456,3	K562	blood:
11	chr6:143832133..143833031-chr6:143857456..143858446,2	MCF-7	breast:
12	chr6:143381314..143382842-chr6:143831327..143834058,3	K562	blood:
13	chr6:143770206..143776731-chr6:143830754..143834661,9	K562	blood:
14	chr6:143832151..143834228-chr6:144285681..144288374,2	MCF-7	breast:

Variant related genes	Relation type
FUCA2	TF binding region
ENSG00000112419	Chromatin interaction
ENSG00000257065	Chromatin interaction
ENSG00000118495	Chromatin interaction
ENSG00000189007	Chromatin interaction
ENSG00000101384	Chromatin interaction
ENSG00000223203	Chromatin interaction
ENSG00000146416	Chromatin interaction
ENSG00000034693	Chromatin interaction
ENSG00000001036	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1138410	0.90[YRI][hapmap]
rs35220041	1.00[EUR][1000 genomes]
rs56806297	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9484753	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9484756	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9496615	1.00[EUR][1000 genomes]
rs9496633	0.90[YRI][hapmap]
rs9496636	0.90[YRI][hapmap]
rs9496639	0.90[YRI][hapmap]
rs9496642	1.00[YRI][hapmap]
rs9496643	1.00[YRI][hapmap]
rs9496648	1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs9496649	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143830200-143833000	Active TSS	Fetal Intestine Large	intestine
2	chr6:143831000-143833000	Active TSS	Fetal Intestine Small	intestine
3	chr6:143831200-143833000	Active TSS	Ovary	ovary
4	chr6:143831200-143833000	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr6:143831200-143833000	Active TSS	Rectal Mucosa Donor 31	rectum
6	chr6:143831200-143833000	Active TSS	Hela-S3	cervix
7	chr6:143831200-143833000	Active TSS	K562	blood
8	chr6:143831200-143833400	Active TSS	A549	lung
9	chr6:143831400-143833400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:143831600-143833000	Active TSS	Stomach Smooth Muscle	stomach
11	chr6:143831600-143833000	Active TSS	NHLF	lung
12	chr6:143831600-143833400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr6:143831600-143833400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:143831600-143833400	Active TSS	Rectal Smooth Muscle	rectum
15	chr6:143831600-143833400	Active TSS	Right Ventricle	heart
16	chr6:143831800-143833000	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr6:143831800-143833000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:143831800-143833000	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr6:143831800-143833000	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr6:143831800-143833000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:143831800-143833000	Active TSS	Brain Cingulate Gyrus	brain
22	chr6:143831800-143833000	Active TSS	Fetal Stomach	stomach
23	chr6:143831800-143833000	Active TSS	NHDF-Ad	bronchial
24	chr6:143831800-143833200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:143831800-143833200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:143831800-143833200	Flanking Active TSS	Liver	Liver
27	chr6:143831800-143833200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr6:143831800-143833200	Flanking Active TSS	HUVEC	blood vessel
29	chr6:143831800-143833400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr6:143831800-143833400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:143831800-143833400	Active TSS	Brain Hippocampus Middle	brain
32	chr6:143831800-143833400	Active TSS	Psoas Muscle	Psoas
33	chr6:143832000-143833000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr6:143832000-143833000	Active TSS	H9 Cell Line	embryonic stem cell
35	chr6:143832000-143833000	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr6:143832000-143833000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr6:143832000-143833000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr6:143832000-143833000	Active TSS	Aorta	Aorta
39	chr6:143832000-143833000	Active TSS	Gastric	stomach
40	chr6:143832000-143833000	Active TSS	Left Ventricle	heart
41	chr6:143832000-143833000	Active TSS	Lung	lung
42	chr6:143832000-143833200	Active TSS	Primary B cells from cord blood	blood
43	chr6:143832000-143833200	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr6:143832000-143833200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr6:143832000-143833200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr6:143832000-143833200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr6:143832000-143833200	Flanking Active TSS	Fetal Thymus	thymus
48	chr6:143832000-143833200	Flanking Active TSS	HMEC	breast
49	chr6:143832000-143833400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:143832000-143833400	Flanking Active TSS	Primary T cells fromperipheralblood	blood

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