Variant report

Variant	rs2242121
Chromosome Location	chr10:93392980-93392981
allele	C/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	HA-E2F1	chr10:93392502-93393415	MCF-7	breast:	n/a	chr10:93392938-93392948 chr10:93392527-93392544
2	GATA3	chr10:93392845-93393170	SH-SY5Y	brain:	n/a	chr10:93392849-93392861 chr10:93392851-93392860 chr10:93392850-93392860
3	MAX	chr10:93392492-93393551	HepG2	liver:	n/a	chr10:93392865-93392876 chr10:93392866-93392875
4	GABPA	chr10:93392816-93393259	H1-hESC	embryonic stem cell:	n/a	chr10:93393099-93393108
5	EP300	chr10:93392746-93393246	HepG2	liver:	n/a	chr10:93393099-93393108 chr10:93392926-93392942
6	GATA3	chr10:93392209-93393436	SK-N-SH	brain:	n/a	chr10:93392849-93392861 chr10:93392851-93392860 chr10:93392850-93392860
7	E2F6	chr10:93392471-93393705	H1-hESC	embryonic stem cell:	n/a	chr10:93392938-93392948 chr10:93392527-93392544
8	POLR2A	chr10:93392561-93393204	A549	lung:	n/a	n/a
9	POLR2A	chr10:93392522-93393334	HepG2	liver:	n/a	n/a
10	BHLHE40	chr10:93392572-93393204	HepG2	liver:	n/a	chr10:93392866-93392875 chr10:93392867-93392876 chr10:93392866-93392875
11	TCF12	chr10:93392234-93393563	A549	lung:	n/a	chr10:93393032-93393039
12	CTCF	chr10:93392975-93393198	A549	lung:	n/a	n/a
13	GABPA	chr10:93392676-93393188	H1-hESC	embryonic stem cell:	n/a	chr10:93393099-93393108
14	CHD2	chr10:93392607-93393223	HepG2	liver:	n/a	n/a
15	TAF1	chr10:93392622-93393209	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr10:93391588-93393372	U87	brain:	n/a	n/a
17	RAD21	chr10:93391766-93393511	IMR90	lung:	n/a	n/a
18	POLR2A	chr10:93392204-93393678	U87	brain:	n/a	n/a
19	TCF7L2	chr10:93392635-93393295	Hela-S3	cervix:	n/a	n/a
20	GTF2F1	chr10:93392595-93393157	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr10:93392446-93393230	K562	blood:	n/a	n/a
22	CTCF	chr10:93392880-93393030	HFF-Myc	foreskin:	n/a	n/a
23	NFIC	chr10:93392635-93393201	HepG2	liver:	n/a	n/a
24	REST	chr10:93392534-93393079	SK-N-SH	brain:	n/a	n/a
25	MAX	chr10:93392593-93393570	SK-N-SH	brain:	n/a	chr10:93392865-93392876 chr10:93392866-93392875
26	POLR2A	chr10:93392467-93393201	MCF-7	breast:	n/a	n/a
27	HNF4A	chr10:93392833-93393204	HepG2	liver:	n/a	n/a
28	YY1	chr10:93392834-93393243	SK-N-SH_RA	brain:	n/a	chr10:93393096-93393110 chr10:93393071-93393082
29	MAX	chr10:93392405-93393634	HepG2	liver:	n/a	chr10:93392865-93392876 chr10:93392866-93392875
30	RAD21	chr10:93392523-93393315	H1-hESC	embryonic stem cell:	n/a	n/a
31	HDAC2	chr10:93392506-93393369	MCF-7	breast:	n/a	chr10:93392850-93392859
32	POLR2A	chr10:93392601-93393205	HepG2	liver:	n/a	n/a
33	CEBPD	chr10:93392507-93393220	HepG2	liver:	n/a	n/a
34	POLR2A	chr10:93392604-93393157	HepG2	liver:	n/a	n/a
35	USF2	chr10:93392820-93393022	GM12878	blood:	n/a	chr10:93392865-93392876 chr10:93392866-93392875 chr10:93392867-93392876 chr10:93392866-93392875
36	EP300	chr10:93392467-93393362	A549	lung:	n/a	chr10:93393099-93393108 chr10:93392926-93392942
37	SMARCB1	chr10:93392561-93393420	Hela-S3	cervix:	n/a	n/a
38	MBD4	chr10:93392349-93393441	HepG2	liver:	n/a	n/a
39	PML	chr10:93392493-93392997	MCF-7	breast:	n/a	n/a
40	ZKSCAN1	chr10:93392543-93393253	Hela-S3	cervix:	n/a	n/a
41	FOSL2	chr10:93392625-93393267	HepG2	liver:	n/a	n/a
42	GATA2	chr10:93392247-93393266	HUVEC	blood vessel:	n/a	chr10:93392849-93392861 chr10:93392851-93392860 chr10:93392850-93392860
43	RFX5	chr10:93392637-93393252	HepG2	liver:	n/a	chr10:93392954-93392963
44	POLR2A	chr10:93392628-93393171	A549	lung:	n/a	n/a
45	USF1	chr10:93392507-93393270	A549	lung:	n/a	chr10:93392958-93392969 chr10:93392866-93392875 chr10:93392867-93392876 chr10:93392866-93392875
46	ATF3	chr10:93392573-93393390	A549	lung:	n/a	chr10:93393071-93393091 chr10:93392959-93392979
47	RCOR1	chr10:93392706-93393273	HepG2	liver:	n/a	n/a
48	TAF1	chr10:93392439-93393278	A549	lung:	n/a	n/a
49	CTCF	chr10:93392938-93393285	H1-hESC	embryonic stem cell:	n/a	n/a
50	NFIC	chr10:93392472-93393337	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:93168131..93170607-chr10:93391298..93393665,3	MCF-7	breast:
2	chr10:93387435..93390652-chr10:93392972..93396624,3	K562	blood:
3	chr10:93168063..93170852-chr10:93390602..93395151,5	MCF-7	breast:

Variant related genes	Relation type
PPP1R3C	TF binding region
ENSG00000165338	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10786006	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10881931	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11186630	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11186639	0.98[EUR][1000 genomes]
rs11819558	0.82[ASN][1000 genomes]
rs11819574	0.82[ASN][1000 genomes]
rs12354606	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17106864	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17106868	0.81[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17106892	0.82[ASN][1000 genomes]
rs4933678	0.92[EUR][1000 genomes]
rs4933679	0.91[EUR][1000 genomes]
rs4933688	0.90[EUR][1000 genomes]
rs7071622	0.85[ASN][1000 genomes]
rs73320191	0.85[ASN][1000 genomes]
rs73322045	0.82[ASN][1000 genomes]
rs7907539	0.82[ASN][1000 genomes]

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:93388000-93393600	Active TSS	Right Atrium	heart
2	chr10:93388600-93393600	Active TSS	Brain Angular Gyrus	brain
3	chr10:93388800-93393600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr10:93389200-93393000	Active TSS	Duodenum Mucosa	Duodenum
5	chr10:93389400-93393600	Active TSS	Right Ventricle	heart
6	chr10:93390000-93393400	Active TSS	Brain Anterior Caudate	brain
7	chr10:93390200-93393200	Active TSS	Fetal Kidney	kidney
8	chr10:93390400-93393200	Active TSS	Liver	Liver
9	chr10:93390600-93393000	Active TSS	Esophagus	oesophagus
10	chr10:93390600-93393200	Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr10:93390600-93393400	Active TSS	NHLF	lung
12	chr10:93390600-93393600	Active TSS	Brain Hippocampus Middle	brain
13	chr10:93390800-93393200	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr10:93390800-93393200	Active TSS	Rectal Smooth Muscle	rectum
15	chr10:93390800-93393600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr10:93390800-93394000	Active TSS	Stomach Smooth Muscle	stomach
17	chr10:93391000-93393200	Active TSS	Fetal Intestine Large	intestine
18	chr10:93391000-93393400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr10:93391000-93393400	Active TSS	Brain Cingulate Gyrus	brain
20	chr10:93391000-93393400	Active TSS	Fetal Intestine Small	intestine
21	chr10:93391000-93393400	Active TSS	A549	lung
22	chr10:93391000-93393600	Active TSS	Aorta	Aorta
23	chr10:93391000-93393600	Active TSS	Left Ventricle	heart
24	chr10:93391000-93393800	Active TSS	HSMM	muscle
25	chr10:93391200-93393200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr10:93391200-93393200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr10:93391200-93393200	Active TSS	Muscle Satellite Cultured Cells	--
28	chr10:93391200-93393200	Active TSS	HSMMtube	muscle
29	chr10:93391200-93393200	Active TSS	NHDF-Ad	bronchial
30	chr10:93391200-93393400	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr10:93391200-93393400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr10:93391200-93393400	Active TSS	Brain Germinal Matrix	brain
33	chr10:93391200-93393400	Active TSS	Colon Smooth Muscle	Colon
34	chr10:93391200-93393600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr10:93391200-93393600	Active TSS	Ovary	ovary
36	chr10:93391200-93393600	Active TSS	Psoas Muscle	Psoas
37	chr10:93391400-93393200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr10:93391400-93393200	Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr10:93391400-93393200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr10:93391800-93393200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
41	chr10:93391800-93393400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
42	chr10:93391800-93393600	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr10:93391800-93393600	Active TSS	Brain Substantia Nigra	brain
44	chr10:93391800-93393800	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr10:93392000-93393200	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr10:93392000-93393200	Active TSS	Stomach Mucosa	stomach
47	chr10:93392000-93393200	Active TSS	Hela-S3	cervix
48	chr10:93392200-93393000	Bivalent/Poised TSS	GM12878-XiMat	blood
49	chr10:93392200-93393200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr10:93392200-93393200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell

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