Variant report

Variant	rs73225238
Chromosome Location	chr12:120967488-120967489
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:91)
CpG islands
(count:61)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:91 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr12:120966510-120968109	A549	lung:	n/a	n/a
2	IRF1	chr12:120966627-120967990	K562	blood:	n/a	chr12:120967969-120967979 chr12:120967969-120967983 chr12:120967965-120967979 chr12:120967887-120967896 chr12:120967957-120967977
3	POLR2A	chr12:120966453-120967749	PFSK-1	brain:	n/a	n/a
4	HEY1	chr12:120967434-120967838	HepG2	liver:	n/a	n/a
5	TEAD4	chr12:120966494-120967896	K562	blood:	n/a	n/a
6	MAX	chr12:120966698-120967939	NB4	blood:	n/a	n/a
7	MXI1	chr12:120966605-120967897	IMR90	lung:	n/a	n/a
8	BRCA1	chr12:120967485-120967831	Hela-S3	cervix:	n/a	n/a
9	GATA3	chr12:120966614-120967796	A549	lung:	n/a	chr12:120967046-120967053
10	MAZ	chr12:120967486-120967771	Hela-S3	cervix:	n/a	n/a
11	TBL1XR1	chr12:120966634-120967806	K562	blood:	n/a	n/a
12	POLR2A	chr12:120967480-120967708	HepG2	liver:	n/a	n/a
13	MAX	chr12:120966487-120967945	A549	lung:	n/a	n/a
14	KAP1	chr12:120966626-120967964	HEK293	kidney:	n/a	n/a
15	GATA3	chr12:120966694-120967873	MCF-7	breast:	n/a	chr12:120967046-120967053
16	CHD1	chr12:120966365-120967943	IMR90	lung:	n/a	n/a
17	POLR2A	chr12:120967440-120967755	K562	blood:	n/a	n/a
18	GATA3	chr12:120966681-120967825	T-47D	breast:	n/a	chr12:120967046-120967053
19	REST	chr12:120966418-120967932	H1-neurons	neurons:	n/a	n/a
20	HEY1	chr12:120967460-120967714	HepG2	liver:	n/a	n/a
21	POLR2A	chr12:120966293-120967864	HUVEC	blood vessel:	n/a	n/a
22	RUNX3	chr12:120966486-120967489	GM12878	blood:	n/a	n/a
23	GATA3	chr12:120966521-120967829	MCF-7	breast:	n/a	chr12:120967046-120967053
24	FOXM1	chr12:120967468-120968198	ECC-1	luminal epithelium:	n/a	n/a
25	MAX	chr12:120967397-120967988	ECC-1	luminal epithelium:	n/a	n/a
26	BCL3	chr12:120966592-120967818	A549	lung:	n/a	n/a
27	MYC	chr12:120966693-120967772	NB4	blood:	n/a	n/a
28	EBF1	chr12:120966766-120967522	GM12878	blood:	n/a	chr12:120967166-120967176
29	CTCF	chr12:120967460-120967610	RPTEC	kidney:	n/a	n/a
30	TAF1	chr12:120967450-120967754	K562	blood:	n/a	n/a
31	MYBL2	chr12:120966552-120968012	HepG2	liver:	n/a	n/a
32	POLR2A	chr12:120966532-120968049	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr12:120967475-120967793	HepG2	liver:	n/a	n/a
34	HDAC2	chr12:120967455-120967838	HepG2	liver:	n/a	n/a
35	ELF1	chr12:120966555-120968081	MCF-7	breast:	n/a	n/a
36	TEAD4	chr12:120967244-120967850	K562	blood:	n/a	n/a
37	CTCF	chr12:120967480-120967630	HMEC	breast:	n/a	n/a
38	NR2F2	chr12:120966548-120967783	MCF-7	breast:	n/a	n/a
39	POLR2A	chr12:120967475-120967780	H1-hESC	embryonic stem cell:	n/a	n/a
40	MXI1	chr12:120966730-120967597	K562	blood:	n/a	n/a
41	POLR2A	chr12:120967310-120967845	ECC-1	luminal epithelium:	n/a	n/a
42	FOXA1	chr12:120967411-120967801	T-47D	breast:	n/a	chr12:120967514-120967526
43	GATA1	chr12:120966798-120967715	PBDE	blood:	n/a	chr12:120967046-120967053
44	ATF2	chr12:120966728-120967612	H1-hESC	embryonic stem cell:	n/a	n/a
45	EP300	chr12:120966764-120967682	K562	blood:	n/a	chr12:120967513-120967523
46	TCF7L2	chr12:120966718-120967759	PANC-1	pancreas:	n/a	n/a
47	POLR2A	chr12:120966452-120967947	H1-hESC	embryonic stem cell:	n/a	n/a
48	RFX5	chr12:120966836-120967921	Hela-S3	cervix:	n/a	n/a
49	HCFC1	chr12:120966614-120967520	K562	blood:	n/a	n/a
50	POLR2A	chr12:120967459-120967749	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:120967456-120967506	ProgFib	skin:	n/a
2	chr12:120967456-120967506	HUVEC	blood vessel:	n/a
3	chr12:120967456-120967506	HCM	heart:	n/a
4	chr12:120967456-120967506	BJ	skin:	n/a
5	chr12:120967456-120967506	HL-60	blood:	n/a
6	chr12:120967456-120967506	U87	brain:	n/a
7	chr12:120967456-120967506	HCPEpiC	choroid plexus:	n/a
8	chr12:120967456-120967506	HEEpiC	esophagus:	n/a
9	chr12:120967456-120967506	Hela-S3	cervix:	n/a
10	chr12:120967456-120967506	LNCaP	prostate:	n/a
11	chr12:120967456-120967506	NHBE	bronchial:	n/a
12	chr12:120967456-120967506	H1-hESC	embryonic stem cell:	embryo
13	chr12:120967456-120967506	HIPEpiC	eye:	n/a
14	chr12:120967456-120967506	RPTEC	kidney:	n/a
15	chr12:120967456-120967506	SAEC	small airway:	n/a
16	chr12:120967456-120967506	IMR90	lung:	fetal
17	chr12:120967456-120967506	BE2_C	brain:	n/a
18	chr12:120967456-120967506	NHDF-neo	bronchial:	n/a
19	chr12:120967456-120967506	GM06990	blood:	n/a
20	chr12:120967456-120967506	HRPEpiC	eye:	n/a
21	chr12:120967456-120967506	HAEpiC	amniotic membrane:	n/a
22	chr12:120967456-120967506	NB4	blood:	n/a
23	chr12:120967456-120967506	Hepatocyte	liver:	n/a
24	chr12:120967456-120967506	AG09319	gingival:	n/a
25	chr12:120967456-120967506	PANC-1	pancreas:	n/a
26	chr12:120967456-120967506	Jurkat	blood:	n/a
27	chr12:120967456-120967506	NH-A	brain:	n/a
28	chr12:120967456-120967506	AoSMC	blood vessel:	n/a
29	chr12:120967456-120967506	ECC-1	luminal epithelium:	n/a
30	chr12:120967456-120967506	NT2-D1	testis:	n/a
31	chr12:120967456-120967506	PFSK-1	brain:	n/a
32	chr12:120967456-120967506	PrEC	prostate:	n/a
33	chr12:120967456-120967506	HCF	heart:	n/a
34	chr12:120967456-120967506	AG09309	skin:	n/a
35	chr12:120967456-120967506	GM12878	blood:	n/a
36	chr12:120967456-120967506	MCF-7	breast:	n/a
37	chr12:120967456-120967506	AG04449	skin:	fetal
38	chr12:120967456-120967506	SKMC	muscle:	n/a
39	chr12:120967456-120967506	SK-N-SH_RA	brain:	n/a
40	chr12:120967456-120967506	HMEC	breast:	n/a
41	chr12:120967456-120967506	GM12891	blood:	n/a
42	chr12:120967456-120967506	HPAEpiC	pulmonary alveolar:	n/a
43	chr12:120967456-120967506	CMK	blood:	n/a
44	chr12:120967456-120967506	HCT-116	colon:	n/a
45	chr12:120967456-120967506	HRCEpiC	kidney:	n/a
46	chr12:120967456-120967506	T-47D	breast:	n/a
47	chr12:120967456-120967506	K562	blood:	n/a
48	chr12:120967456-120967506	AG10803	skin:	n/a
49	chr12:120967456-120967506	A549	lung:	n/a
50	chr12:120967456-120967506	GM12892	blood:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120905972..120909439-chr12:120965576..120970322,8	MCF-7	breast:
2	chr12:120728049..120731590-chr12:120965249..120968541,5	K562	blood:
3	chr12:120932502..120935417-chr12:120966408..120968984,3	MCF-7	breast:
4	chr12:120966448..120968669-chr12:120990053..120993175,3	MCF-7	breast:
5	chr12:120728453..120733011-chr12:120965347..120973411,16	MCF-7	breast:
6	chr12:120964646..120969249-chr12:120969286..120973951,11	MCF-7	breast:
7	chr12:120636466..120640337-chr12:120966729..120969535,3	MCF-7	breast:
8	chr12:120932523..120935512-chr12:120965345..120968367,3	MCF-7	breast:
9	chr12:120637319..120640372-chr12:120965439..120969225,4	K562	blood:
10	chr12:120965472..120968197-chr12:121646463..121648820,2	K562	blood:
11	chr12:120729237..120731146-chr12:120965181..120968217,3	MCF-7	breast:
12	chr12:120905660..120907924-chr12:120965439..120968401,2	MCF-7	breast:
13	chr12:120932975..120935609-chr12:120965561..120969430,6	K562	blood:
14	chr12:120883044..120885202-chr12:120966979..120969581,2	K562	blood:
15	chr12:120934054..120936287-chr12:120966292..120969256,3	K562	blood:
16	chr12:120907343..120910344-chr12:120965426..120968868,4	K562	blood:

No data

Variant related genes	Relation type
RNF10	TF binding region
COQ5	TF binding region
COQ5	CpG island
RNF10	CpG island
ENSG00000110871	Chromatin interaction
ENSG00000022840	Chromatin interaction
ENSG00000089157	Chromatin interaction
ENSG00000170855	Chromatin interaction
ENSG00000248008	Chromatin interaction
ENSG00000255857	Chromatin interaction
ENSG00000135124	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000257218	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000111786	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11548264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12315013	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs14017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16950287	1.00[ASN][1000 genomes]
rs17431357	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17431446	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17487385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17509145	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17584461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17584503	1.00[AFR][1000 genomes]
rs73221341	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73221346	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73221358	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73221362	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73221363	1.00[ASN][1000 genomes]
rs73221368	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73221372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73221373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73221378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73221380	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73221381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73221382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223295	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73223296	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73225205	1.00[AFR][1000 genomes]
rs73225208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225219	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225229	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225249	1.00[AFR][1000 genomes]
rs73230303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73230305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73230306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73230308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73230313	1.00[AFR][1000 genomes]
rs73230314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73230318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73230322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73230328	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73230332	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73230336	1.00[ASN][1000 genomes]
rs73230337	0.90[AMR][1000 genomes]
rs73230339	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73230342	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120965800-120967600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:120966000-120967600	Active TSS	H1 Cell Line	embryonic stem cell
3	chr12:120966000-120967600	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr12:120966000-120967600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:120966000-120967600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:120966000-120967600	Active TSS	Brain Hippocampus Middle	brain
7	chr12:120966000-120967600	Active TSS	Fetal Lung	lung
8	chr12:120966000-120967600	Active TSS	A549	lung
9	chr12:120966000-120967800	Active TSS	H9 Cell Line	embryonic stem cell
10	chr12:120966000-120967800	Active TSS	Colon Smooth Muscle	Colon
11	chr12:120966000-120967800	Active TSS	Fetal Muscle Trunk	muscle
12	chr12:120966000-120968000	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr12:120966000-120968000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:120966000-120968000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:120966000-120968000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:120966000-120968000	Active TSS	Brain Anterior Caudate	brain
17	chr12:120966000-120968000	Active TSS	Fetal Brain Female	brain
18	chr12:120966000-120968000	Active TSS	Fetal Stomach	stomach
19	chr12:120966000-120968000	Active TSS	GM12878-XiMat	blood
20	chr12:120966000-120968200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:120966000-120968200	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr12:120966000-120968200	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr12:120966000-120968200	Active TSS	Fetal Kidney	kidney
24	chr12:120966000-120968200	Active TSS	Psoas Muscle	Psoas
25	chr12:120966000-120968200	Active TSS	Right Atrium	heart
26	chr12:120966000-120968200	Active TSS	NHDF-Ad	bronchial
27	chr12:120966000-120968400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:120966000-120968400	Active TSS	Rectal Smooth Muscle	rectum
29	chr12:120966000-120968400	Active TSS	HepG2	liver
30	chr12:120966000-120968600	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr12:120966200-120967600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr12:120966200-120967600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr12:120966200-120967600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:120966200-120967600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:120966200-120967600	Active TSS	Pancreas	Pancrea
36	chr12:120966200-120967800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:120966200-120968000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr12:120966200-120968000	Active TSS	Aorta	Aorta
39	chr12:120966200-120968000	Active TSS	Brain Angular Gyrus	brain
40	chr12:120966200-120968000	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr12:120966200-120968000	Active TSS	Ovary	ovary
42	chr12:120966200-120968000	Active TSS	Stomach Mucosa	stomach
43	chr12:120966200-120968200	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr12:120966200-120968200	Active TSS	Colonic Mucosa	Colon
45	chr12:120966200-120968200	Active TSS	Fetal Intestine Large	intestine
46	chr12:120966200-120968200	Active TSS	Fetal Intestine Small	intestine
47	chr12:120966400-120967600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr12:120966400-120967600	Active TSS	Fetal Muscle Leg	muscle
49	chr12:120966400-120967600	Active TSS	Right Ventricle	heart
50	chr12:120966400-120967800	Active TSS	Brain Substantia Nigra	brain

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