Variant report

Variant	rs73981054
Chromosome Location	chr2:191184666-191184667
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	TBL1XR1	chr2:191184406-191185154	K562	blood:	n/a	n/a
2	SIN3AK20	chr2:191184322-191184852	K562	blood:	n/a	n/a
3	UBTF	chr2:191184409-191184947	K562	blood:	n/a	n/a
4	GABPA	chr2:191184229-191185151	A549	lung:	n/a	chr2:191184545-191184554
5	POLR2A	chr2:191183924-191185081	K562	blood:	n/a	n/a
6	GABPA	chr2:191184391-191184914	K562	blood:	n/a	chr2:191184545-191184554
7	GTF2F1	chr2:191184400-191184950	H1-hESC	embryonic stem cell:	n/a	n/a
8	STAT5A	chr2:191184271-191185233	GM12878	blood:	n/a	chr2:191184670-191184682 chr2:191184628-191184640
9	EP300	chr2:191184354-191184962	K562	blood:	n/a	n/a
10	MXI1	chr2:191183804-191184972	GM12878	blood:	n/a	n/a
11	ARID3A	chr2:191184390-191185224	HepG2	liver:	n/a	chr2:191184887-191184903
12	POLR2A	chr2:191184289-191184884	H1-hESC	embryonic stem cell:	n/a	n/a
13	GABPA	chr2:191184331-191184883	HepG2	liver:	n/a	chr2:191184545-191184554
14	TAF1	chr2:191184325-191185003	PFSK-1	brain:	n/a	n/a
15	CTCF	chr2:191184612-191184942	Pancreas_OC	pancreas:	n/a	chr2:191184773-191184794 chr2:191184778-191184796
16	SMC3	chr2:191184630-191184953	GM12878	blood:	n/a	chr2:191184780-191184794 chr2:191184845-191184853
17	ATF2	chr2:191184311-191184984	GM12878	blood:	n/a	n/a
18	POLR2A	chr2:191184324-191184769	K562	blood:	n/a	n/a
19	POLR2A	chr2:191184274-191184910	HepG2	liver:	n/a	n/a
20	POLR2A	chr2:191184084-191184871	MCF-7	breast:	n/a	n/a
21	MAX	chr2:191184174-191185026	HCT-116	colon:	n/a	chr2:191184544-191184554
22	TAF1	chr2:191184244-191184931	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr2:191184230-191184883	PANC-1	pancreas:	n/a	n/a
24	RAD21	chr2:191184391-191184871	SK-N-SH_RA	brain:	n/a	chr2:191184776-191184795
25	TAF1	chr2:191184190-191185100	ECC-1	luminal epithelium:	n/a	n/a
26	THAP1	chr2:191184506-191184807	K562	blood:	n/a	n/a
27	USF1	chr2:191184388-191184883	A549	lung:	n/a	n/a
28	POLR2A	chr2:191184283-191184885	K562	blood:	n/a	n/a
29	ELF1	chr2:191184224-191185140	MCF-7	breast:	n/a	chr2:191184565-191184574 chr2:191184545-191184557
30	CREB1	chr2:191184360-191184990	ECC-1	luminal epithelium:	n/a	n/a
31	STAT5A	chr2:191184501-191184995	K562	blood:	n/a	chr2:191184670-191184682 chr2:191184628-191184640
32	EGR1	chr2:191184401-191184810	K562	blood:	n/a	chr2:191184545-191184555 chr2:191184544-191184554
33	SIN3AK20	chr2:191184288-191184856	A549	lung:	n/a	n/a
34	SMC3	chr2:191183929-191184967	Hela-S3	cervix:	n/a	chr2:191184780-191184794 chr2:191184845-191184853
35	REST	chr2:191184539-191184837	K562	blood:	n/a	chr2:191184544-191184557
36	POLR2A	chr2:191184292-191184909	SK-N-SH	brain:	n/a	n/a
37	RCOR1	chr2:191183583-191185779	IMR90	lung:	n/a	n/a
38	YY1	chr2:191184373-191184956	SK-N-SH_RA	brain:	n/a	n/a
39	REST	chr2:191184426-191184672	GM12878	blood:	n/a	chr2:191184544-191184557
40	YY1	chr2:191184385-191184867	A549	lung:	n/a	n/a
41	CTCF	chr2:191184535-191185039	IMR90	lung:	n/a	chr2:191184773-191184794 chr2:191184778-191184796
42	FOSL2	chr2:191184332-191185051	A549	lung:	n/a	n/a
43	SP2	chr2:191184271-191185009	H1-hESC	embryonic stem cell:	n/a	chr2:191184698-191184713 chr2:191184626-191184641
44	POLR2A	chr2:191184321-191184876	GM10847	blood:	n/a	n/a
45	USF1	chr2:191184411-191184878	A549	lung:	n/a	n/a
46	ZNF143	chr2:191184443-191184956	Hela-S3	cervix:	n/a	chr2:191184561-191184571
47	ELF1	chr2:191184348-191184870	HepG2	liver:	n/a	chr2:191184565-191184574 chr2:191184545-191184557
48	RAD21	chr2:191184560-191185034	A549	lung:	n/a	chr2:191184776-191184795
49	POLR2A	chr2:191184298-191184958	U87	brain:	n/a	n/a
50	RCOR1	chr2:191184308-191184975	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:191184621-191184671	NB4	blood:	n/a
2	chr2:191184621-191184671	AG10803	skin:	n/a
3	chr2:191184621-191184671	HCM	heart:	n/a
4	chr2:191184621-191184671	Hepatocyte	liver:	n/a
5	chr2:191184621-191184671	AoSMC	blood vessel:	n/a
6	chr2:191184621-191184671	AG09309	skin:	n/a
7	chr2:191184621-191184671	U87	brain:	n/a
8	chr2:191184621-191184671	MCF-7	breast:	n/a
9	chr2:191184621-191184671	PrEC	prostate:	n/a
10	chr2:191184621-191184671	HEEpiC	esophagus:	n/a
11	chr2:191184621-191184671	AG04450	lung:	fetal
12	chr2:191184621-191184671	ovcar-3	ovarian:	n/a
13	chr2:191184621-191184671	HRPEpiC	eye:	n/a
14	chr2:191184621-191184671	HepG2	liver:	n/a
15	chr2:191184621-191184671	HAEpiC	amniotic membrane:	n/a
16	chr2:191184621-191184671	BE2_C	brain:	n/a
17	chr2:191184621-191184671	LNCaP	prostate:	n/a
18	chr2:191184621-191184671	HPAEpiC	pulmonary alveolar:	n/a
19	chr2:191184621-191184671	HRCEpiC	kidney:	n/a
20	chr2:191184621-191184671	HIPEpiC	eye:	n/a
21	chr2:191184621-191184671	HCPEpiC	choroid plexus:	n/a
22	chr2:191184621-191184671	AG04449	skin:	fetal
23	chr2:191184621-191184671	IMR90	lung:	fetal
24	chr2:191184621-191184671	ProgFib	skin:	n/a
25	chr2:191184621-191184671	A549	lung:	n/a
26	chr2:191184621-191184671	K562	blood:	n/a
27	chr2:191184621-191184671	Hela-S3	cervix:	n/a
28	chr2:191184621-191184671	T-47D	breast:	n/a
29	chr2:191184621-191184671	HUVEC	blood vessel:	n/a
30	chr2:191184621-191184671	MCF10A-Er-Src	breast:	n/a
31	chr2:191184621-191184671	NT2-D1	testis:	n/a
32	chr2:191184621-191184671	GM12891	blood:	n/a
33	chr2:191184621-191184671	Jurkat	blood:	n/a
34	chr2:191184621-191184671	GM12892	blood:	n/a
35	chr2:191184621-191184671	GM19239	blood:	n/a
36	chr2:191184621-191184671	NHDF-neo	bronchial:	n/a
37	chr2:191184621-191184671	ECC-1	luminal epithelium:	n/a
38	chr2:191184621-191184671	SK-N-SH	brain:	n/a
39	chr2:191184621-191184671	AG09319	gingival:	n/a
40	chr2:191184621-191184671	HRE	kidney:	n/a
41	chr2:191184621-191184671	BJ	skin:	n/a
42	chr2:191184621-191184671	HMEC	breast:	n/a
43	chr2:191184621-191184671	PANC-1	pancreas:	n/a
44	chr2:191184621-191184671	CMK	blood:	n/a
45	chr2:191184621-191184671	SK-N-MC	brain:	n/a
46	chr2:191184621-191184671	HL-60	blood:	n/a
47	chr2:191184621-191184671	SAEC	small airway:	n/a
48	chr2:191184621-191184671	RPTEC	kidney:	n/a
49	chr2:191184621-191184671	GM06990	blood:	n/a
50	chr2:191184621-191184671	HCT-116	colon:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:191183320..191185607-chr2:191359830..191362891,3	K562	blood:
2	chr2:191183081..191185976-chr2:191744266..191746681,2	K562	blood:
3	chr2:191184511..191186549-chr2:191207772..191209465,2	MCF-7	breast:
4	chr17:37356348..37357017-chr2:191184174..191185018,2	Hela-S3	cervix:

Variant related genes	Relation type
HIBCH	TF binding region
HIBCH	CpG island
ENSG00000115419	Chromatin interaction
ENSG00000198130	Chromatin interaction
ENSG00000151689	Chromatin interaction
ENSG00000108298	Chromatin interaction
ENSG00000151690	Chromatin interaction

rs_ID	r²[population]
rs55720128	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56377734	1.00[AMR][1000 genomes]
rs57122175	1.00[AMR][1000 genomes]
rs57343761	1.00[AMR][1000 genomes]
rs57582672	1.00[AMR][1000 genomes]
rs57628475	1.00[AMR][1000 genomes]
rs60584672	1.00[AMR][1000 genomes]
rs6709330	1.00[AMR][1000 genomes]
rs6712402	1.00[AMR][1000 genomes]
rs6723320	1.00[AMR][1000 genomes]
rs6735577	1.00[AMR][1000 genomes]
rs73042248	1.00[AMR][1000 genomes]
rs73042252	1.00[AMR][1000 genomes]
rs73053718	1.00[AMR][1000 genomes]
rs73053733	1.00[AMR][1000 genomes]
rs73055787	1.00[AMR][1000 genomes]
rs73057818	1.00[AMR][1000 genomes]
rs73978977	1.00[AMR][1000 genomes]
rs73981026	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73981061	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7594755	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191182800-191185000	Active TSS	K562	blood
2	chr2:191183000-191185000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:191183000-191185200	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr2:191183200-191184800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:191183200-191184800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:191183200-191184800	Active TSS	Gastric	stomach
7	chr2:191183200-191185000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:191183200-191185000	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr2:191183200-191185200	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr2:191183200-191185200	Active TSS	Brain Germinal Matrix	brain
11	chr2:191183200-191185200	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr2:191183200-191185400	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr2:191183400-191184800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:191183400-191184800	Active TSS	Pancreas	Pancrea
15	chr2:191183400-191185000	Active TSS	H1 Cell Line	embryonic stem cell
16	chr2:191183400-191185000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:191183400-191185000	Active TSS	Fetal Intestine Large	intestine
18	chr2:191183400-191185000	Active TSS	Fetal Kidney	kidney
19	chr2:191183400-191185000	Active TSS	Placenta	Placenta
20	chr2:191183400-191185000	Active TSS	Psoas Muscle	Psoas
21	chr2:191183400-191185000	Active TSS	Right Atrium	heart
22	chr2:191183400-191185000	Active TSS	HSMMtube	muscle
23	chr2:191183400-191185000	Active TSS	NHDF-Ad	bronchial
24	chr2:191183400-191185000	Active TSS	NHLF	lung
25	chr2:191183400-191185200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr2:191183400-191185200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:191183400-191185200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:191183400-191185400	Active TSS	HMEC	breast
29	chr2:191183600-191184800	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr2:191183600-191184800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:191183600-191184800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr2:191183600-191184800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:191183600-191184800	Active TSS	Esophagus	oesophagus
34	chr2:191183600-191185000	Active TSS	H9 Cell Line	embryonic stem cell
35	chr2:191183600-191185000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:191183600-191185000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:191183600-191185000	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr2:191183600-191185000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:191183600-191185000	Active TSS	Brain Anterior Caudate	brain
40	chr2:191183600-191185000	Active TSS	Fetal Intestine Small	intestine
41	chr2:191183600-191185000	Active TSS	Fetal Muscle Trunk	muscle
42	chr2:191183600-191185000	Active TSS	Left Ventricle	heart
43	chr2:191183600-191185000	Active TSS	Rectal Smooth Muscle	rectum
44	chr2:191183600-191185000	Active TSS	Right Ventricle	heart
45	chr2:191183600-191185000	Active TSS	A549	lung
46	chr2:191183600-191185200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:191183600-191185200	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr2:191183600-191185200	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr2:191183600-191185200	Active TSS	Brain Hippocampus Middle	brain
50	chr2:191183600-191185200	Active TSS	Brain Substantia Nigra	brain

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