Variant report

Variant	rs12331583
Chromosome Location	chr4:77155240-77155241
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:46)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:46 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr4:77155130-77155424	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr4:77155092-77155392	K562	blood:	n/a	n/a
3	POLR2A	chr4:77155130-77155931	K562	blood:	n/a	n/a
4	MYC	chr4:77155214-77155320	K562	blood:	n/a	n/a
5	MYC	chr4:77154851-77155897	K562	blood:	n/a	n/a
6	POLR2A	chr4:77155077-77155969	K562	blood:	n/a	n/a
7	POLR2A	chr4:77154833-77156028	K562	blood:	n/a	n/a
8	CHD2	chr4:77154998-77155815	K562	blood:	n/a	n/a
9	MXI1	chr4:77154220-77156125	SK-N-SH	brain:	n/a	n/a
10	TRIM28	chr4:77155206-77155885	K562	blood:	n/a	n/a
11	SIN3A	chr4:77155198-77155467	H1-hESC	embryonic stem cell:	n/a	n/a
12	TAF1	chr4:77155096-77155895	K562	blood:	n/a	n/a
13	MAZ	chr4:77154762-77155989	K562	blood:	n/a	n/a
14	POLR2A	chr4:77154769-77155931	K562	blood:	n/a	n/a
15	MAX	chr4:77155078-77155873	K562	blood:	n/a	n/a
16	MAX	chr4:77155085-77155892	SK-N-SH	brain:	n/a	n/a
17	GATA1	chr4:77153887-77155287	PBDE	blood:	n/a	n/a
18	MYC	chr4:77154721-77155985	K562	blood:	n/a	n/a
19	MYC	chr4:77155198-77155367	MCF-7	breast:	n/a	n/a
20	POLR2A	chr4:77155097-77155359	HCT-116	colon:	n/a	n/a
21	MAX	chr4:77154942-77156162	HCT-116	colon:	n/a	n/a
22	MYC	chr4:77154782-77155897	K562	blood:	n/a	n/a
23	MYC	chr4:77155140-77155246	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr4:77155232-77155902	H1-hESC	embryonic stem cell:	n/a	n/a
25	PML	chr4:77154713-77155303	K562	blood:	n/a	n/a
26	POLR2A	chr4:77155192-77155937	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr4:77154808-77156066	K562	blood:	n/a	n/a
28	MAX	chr4:77155092-77155997	K562	blood:	n/a	n/a
29	TEAD4	chr4:77155171-77155974	K562	blood:	n/a	n/a
30	BHLHE40	chr4:77155240-77155266	K562	blood:	n/a	n/a
31	POLR2A	chr4:77154747-77155873	K562	blood:	n/a	n/a
32	EGR1	chr4:77155185-77155468	K562	blood:	n/a	n/a
33	E2F6	chr4:77155139-77155342	K562	blood:	n/a	n/a
34	TBP	chr4:77155196-77155990	K562	blood:	n/a	n/a
35	UBTF	chr4:77155204-77155751	K562	blood:	n/a	n/a
36	TBL1XR1	chr4:77154744-77155885	K562	blood:	n/a	n/a
37	MXI1	chr4:77155099-77155361	K562	blood:	n/a	n/a
38	EGR1	chr4:77155221-77155491	K562	blood:	n/a	n/a
39	CBX3	chr4:77155044-77156100	K562	blood:	n/a	n/a
40	HEY1	chr4:77155083-77155882	K562	blood:	n/a	n/a
41	SIN3AK20	chr4:77155051-77155999	MCF-7	breast:	n/a	n/a
42	MAX	chr4:77155114-77155489	MCF-7	breast:	n/a	n/a
43	POLR2A	chr4:77155225-77155351	ProgFib	skin:	n/a	n/a
44	IRF1	chr4:77154536-77155906	K562	blood:	n/a	n/a
45	MAX	chr4:77155044-77155407	H1-hESC	embryonic stem cell:	n/a	n/a
46	MYC	chr4:77155184-77155331	MCF-7	breast:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:77154636..77156996-chr4:77223567..77225179,2	MCF-7	breast:
2	chr4:77154634..77156817-chr4:77226157..77228039,2	MCF-7	breast:
3	chr4:77149994..77152737-chr4:77153466..77157199,4	MCF-7	breast:
4	chr4:77154984..77156976-chr4:77172946..77174616,2	K562	blood:
5	chr4:77153577..77156755-chr4:77170388..77173391,3	MCF-7	breast:
6	chr4:77154267..77157230-chr4:77166961..77169632,3	MCF-7	breast:
7	chr4:77154403..77156525-chr4:77159760..77161520,2	K562	blood:
8	chr4:77132958..77141575-chr4:77150872..77159587,22	MCF-7	breast:
9	chr4:77154639..77157033-chr4:77221120..77222872,2	MCF-7	breast:
10	chr4:77131893..77139465-chr4:77152630..77158664,14	MCF-7	breast:
11	chr4:77129658..77131326-chr4:77154481..77156766,2	MCF-7	breast:
12	chr4:77154535..77156481-chr4:77226996..77228596,2	MCF-7	breast:

No data

Variant related genes	Relation type
FAM47E	TF binding region
ENSG00000272414	Chromatin interaction
ENSG00000118804	Chromatin interaction
ENSG00000189157	Chromatin interaction
ENSG00000138760	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10446680	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11097296	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097297	0.83[ASN][1000 genomes]
rs11737624	0.88[ASN][1000 genomes]
rs12501795	0.88[ASN][1000 genomes]
rs1348206	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1348208	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1372408	0.88[ASN][1000 genomes]
rs1441906	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1441907	0.85[ASN][1000 genomes]
rs1441908	0.86[ASN][1000 genomes]
rs1441917	0.88[ASN][1000 genomes]
rs1441918	0.88[ASN][1000 genomes]
rs1441919	0.88[ASN][1000 genomes]
rs1441921	0.88[ASN][1000 genomes]
rs1441922	0.88[ASN][1000 genomes]
rs2197102	0.88[ASN][1000 genomes]
rs2218264	0.88[ASN][1000 genomes]
rs28530675	0.88[ASN][1000 genomes]
rs28718095	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2904215	0.88[ASN][1000 genomes]
rs2904216	0.88[ASN][1000 genomes]
rs35177915	0.88[ASN][1000 genomes]
rs35851125	0.88[ASN][1000 genomes]
rs3919711	0.88[ASN][1000 genomes]
rs4859645	0.83[ASN][1000 genomes]
rs4859647	0.84[ASN][1000 genomes]
rs56371028	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6814385	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6837231	0.91[ASN][1000 genomes]
rs6837841	0.88[ASN][1000 genomes]
rs6854218	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6855568	0.82[ASN][1000 genomes]
rs7657929	0.86[ASN][1000 genomes]

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77153000-77155600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr4:77153600-77155400	Active TSS	NHEK	skin
3	chr4:77153600-77156200	Active TSS	K562	blood
4	chr4:77154000-77155400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:77154000-77156400	Enhancers	Placenta Amnion	Placenta Amnion
6	chr4:77154200-77155400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr4:77154200-77155600	Active TSS	H9 Cell Line	embryonic stem cell
8	chr4:77154200-77155600	Enhancers	HMEC	breast
9	chr4:77154200-77155800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr4:77154200-77156000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:77154200-77156000	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr4:77154200-77156000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:77154200-77156000	Active TSS	Fetal Intestine Large	intestine
14	chr4:77154200-77156200	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr4:77154200-77159800	Enhancers	Stomach Mucosa	stomach
16	chr4:77154400-77155800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr4:77154400-77155800	Active TSS	Fetal Intestine Small	intestine
18	chr4:77154400-77155800	Active TSS	Placenta	Placenta
19	chr4:77154400-77155800	Enhancers	Ovary	ovary
20	chr4:77154400-77156000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr4:77154400-77156000	Enhancers	Small Intestine	intestine
22	chr4:77154400-77156200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr4:77154600-77155600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:77154600-77156600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr4:77154800-77155600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr4:77154800-77155800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr4:77154800-77155800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr4:77154800-77155800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr4:77154800-77155800	Active TSS	HepG2	liver
30	chr4:77154800-77156000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:77154800-77156000	Enhancers	Esophagus	oesophagus
32	chr4:77154800-77156000	Enhancers	Pancreas	Pancrea
33	chr4:77154800-77156000	Active TSS	A549	lung
34	chr4:77155000-77155400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr4:77155000-77155400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr4:77155000-77155400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:77155000-77155600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:77155000-77155600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr4:77155000-77155600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr4:77155000-77155600	Active TSS	Fetal Thymus	thymus
41	chr4:77155000-77155800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr4:77155000-77156000	Active TSS	Monocytes-CD14+_RO01746	blood
43	chr4:77155200-77155400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
44	chr4:77155200-77155400	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr4:77155200-77155400	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr4:77155200-77155400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr4:77155200-77155400	Flanking Active TSS	Fetal Muscle Leg	muscle
48	chr4:77155200-77155400	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr4:77155200-77155600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr4:77155200-77155600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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