Variant report

Variant	rs6989615
Chromosome Location	chr8:38857127-38857128
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	POLR2A	chr8:38856293-38857149	HCT-116	colon:	n/a	n/a
2	USF1	chr8:38856521-38857243	A549	lung:	n/a	n/a
3	REST	chr8:38855875-38858248	A549	lung:	n/a	n/a
4	MAX	chr8:38855778-38858136	A549	lung:	n/a	n/a
5	CHD1	chr8:38852795-38859264	IMR90	lung:	n/a	chr8:38854280-38854290 chr8:38854954-38854964
6	JUN	chr8:38856547-38857212	HepG2	liver:	n/a	chr8:38857182-38857194 chr8:38856994-38857003 chr8:38857022-38857031
7	NFIC	chr8:38856951-38857771	ECC-1	luminal epithelium:	n/a	n/a
8	FOS	chr8:38856429-38857647	MCF10A-Er-Src	breast:	n/a	chr8:38857182-38857194 chr8:38857021-38857032 chr8:38856994-38857003 chr8:38857022-38857031
9	NFIC	chr8:38856655-38857651	HepG2	liver:	n/a	n/a
10	EP300	chr8:38856821-38857211	HepG2	liver:	n/a	chr8:38856880-38856887
11	JUND	chr8:38856469-38857631	Hela-S3	cervix:	n/a	chr8:38857182-38857194 chr8:38857021-38857032 chr8:38856994-38857003 chr8:38857022-38857031
12	GATA2	chr8:38856987-38859131	HUVEC	blood vessel:	n/a	n/a
13	ATF3	chr8:38856910-38857240	K562	blood:	n/a	n/a
14	POLR2A	chr8:38855360-38857879	U87	brain:	n/a	n/a
15	JUN	chr8:38856467-38857647	HUVEC	blood vessel:	n/a	chr8:38857182-38857194 chr8:38856994-38857003 chr8:38857022-38857031
16	EP300	chr8:38856336-38857759	SK-N-SH	brain:	n/a	chr8:38856880-38856887 chr8:38857418-38857432 chr8:38856710-38856719
17	SP1	chr8:38856974-38858258	A549	lung:	n/a	n/a
18	MYC	chr8:38856417-38857582	MCF10A-Er-Src	breast:	n/a	n/a
19	MAX	chr8:38856278-38857193	HCT-116	colon:	n/a	n/a
20	JUND	chr8:38856242-38857808	HCT-116	colon:	n/a	chr8:38857182-38857194 chr8:38857021-38857032 chr8:38856994-38857003 chr8:38857022-38857031
21	CEBPB	chr8:38856467-38857140	A549	lung:	n/a	n/a
22	FOS	chr8:38856414-38857648	MCF10A-Er-Src	breast:	n/a	chr8:38857182-38857194 chr8:38857021-38857032 chr8:38856994-38857003 chr8:38857022-38857031
23	MAFF	chr8:38856503-38857575	HepG2	liver:	n/a	n/a
24	FOS	chr8:38856365-38857611	HUVEC	blood vessel:	n/a	chr8:38857182-38857194 chr8:38857021-38857032 chr8:38856994-38857003 chr8:38857022-38857031
25	JUND	chr8:38856048-38857845	HCT-116	colon:	n/a	chr8:38857182-38857194 chr8:38857021-38857032 chr8:38856994-38857003 chr8:38857022-38857031
26	JUN	chr8:38856983-38857182	H1-hESC	embryonic stem cell:	n/a	chr8:38856994-38857003 chr8:38857022-38857031
27	FOSL2	chr8:38856893-38857158	HepG2	liver:	n/a	chr8:38857020-38857031 chr8:38856994-38857003 chr8:38857022-38857031
28	TEAD4	chr8:38856930-38857714	ECC-1	luminal epithelium:	n/a	n/a
29	FOSL1	chr8:38856232-38858172	HCT-116	colon:	n/a	chr8:38857182-38857194 chr8:38856994-38857003 chr8:38857022-38857031 chr8:38857969-38857977
30	MAFK	chr8:38856506-38857132	HepG2	liver:	n/a	n/a
31	TBP	chr8:38856404-38857618	Hela-S3	cervix:	n/a	n/a
32	TEAD4	chr8:38856371-38857737	ECC-1	luminal epithelium:	n/a	n/a
33	FOXA2	chr8:38856919-38857153	HepG2	liver:	n/a	n/a
34	EP300	chr8:38856335-38857301	K562	blood:	n/a	chr8:38856880-38856887 chr8:38856710-38856719
35	MAFK	chr8:38856429-38857213	HepG2	liver:	n/a	n/a
36	SIN3AK20	chr8:38856251-38857580	A549	lung:	n/a	n/a
37	POLR2A	chr8:38856340-38857660	SK-N-SH	brain:	n/a	n/a
38	BCL3	chr8:38856176-38857561	A549	lung:	n/a	n/a
39	JUND	chr8:38856377-38857747	SK-N-SH	brain:	n/a	chr8:38857182-38857194 chr8:38857021-38857032 chr8:38856994-38857003 chr8:38857022-38857031
40	POLR2A	chr8:38853451-38857678	IMR90	lung:	n/a	n/a
41	SIN3AK20	chr8:38856402-38858022	HCT-116	colon:	n/a	n/a
42	CEBPB	chr8:38856359-38857611	Hela-S3	cervix:	n/a	chr8:38857269-38857281
43	ARID3A	chr8:38856512-38857571	HepG2	liver:	n/a	n/a
44	ARID3A	chr8:38856900-38857528	K562	blood:	n/a	n/a
45	FOSL2	chr8:38856335-38857760	SK-N-SH	brain:	n/a	chr8:38857182-38857194 chr8:38857020-38857031 chr8:38856994-38857003 chr8:38857022-38857031
46	EP300	chr8:38856929-38857129	GM12878	blood:	n/a	n/a
47	JUND	chr8:38855969-38857752	SK-N-SH	brain:	n/a	chr8:38857182-38857194 chr8:38857021-38857032 chr8:38856994-38857003 chr8:38857022-38857031
48	GATA3	chr8:38856357-38857716	SK-N-SH	brain:	n/a	n/a
49	SP1	chr8:38856339-38859288	A549	lung:	n/a	n/a
50	CEBPB	chr8:38856258-38858383	HCT-116	colon:	n/a	chr8:38857269-38857281

No.	Distal block	Cell Line	Cell type
1	chr8:38856826..38859687-chr8:38879245..38881053,2	MCF-7	breast:
2	chr8:38849585..38851368-chr8:38856687..38858833,2	MCF-7	breast:
3	chr8:38853560..38856920-chr8:38856982..38859048,5	K562	blood:
4	chr8:38849173..38851753-chr8:38855572..38858070,2	MCF-7	breast:

Variant related genes	Relation type
TM2D2	TF binding region
ENSG00000169490	Chromatin interaction
ENSG00000168615	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10095517	0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10100675	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10102161	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10104287	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10958534	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10958814	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11986341	0.82[EUR][1000 genomes]
rs13250555	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17846551	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34017677	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs35245993	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs35355873	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4313121	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4367507	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4576396	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4633028	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4733895	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4733896	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4733898	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4733902	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4733903	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4733960	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4733963	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4733965	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4733967	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4733968	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4733969	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6474521	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6474522	0.81[AMR][1000 genomes]
rs6474523	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6474524	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6474526	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6474527	0.92[ASN][1000 genomes]
rs6474528	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6474529	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6990299	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7003738	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7013359	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7829041	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7833611	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7836006	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7840293	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7840746	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7844848	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7846203	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9298649	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9643905	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:38852600-38857400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr8:38852600-38857400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:38852600-38857600	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr8:38852600-38857600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:38852600-38857600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:38852800-38857600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:38852800-38857600	Active TSS	Right Ventricle	heart
8	chr8:38852800-38857600	Active TSS	NH-A	brain
9	chr8:38852800-38857800	Active TSS	A549	lung
10	chr8:38852800-38857800	Active TSS	NHLF	lung
11	chr8:38853000-38857400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr8:38853000-38857600	Active TSS	HSMM	muscle
13	chr8:38853200-38857200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:38853200-38857200	Active TSS	Muscle Satellite Cultured Cells	--
15	chr8:38853200-38857200	Active TSS	Brain Angular Gyrus	brain
16	chr8:38853200-38857200	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr8:38853200-38857400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:38853200-38857400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:38853200-38857400	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr8:38853200-38857400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:38853200-38857400	Active TSS	HMEC	breast
22	chr8:38853200-38857400	Active TSS	NHDF-Ad	bronchial
23	chr8:38853200-38857400	Active TSS	NHEK	skin
24	chr8:38853400-38857200	Active TSS	Colon Smooth Muscle	Colon
25	chr8:38853400-38857200	Active TSS	HUVEC	blood vessel
26	chr8:38853600-38857800	Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr8:38853800-38857800	Active TSS	Stomach Smooth Muscle	stomach
28	chr8:38854800-38857600	Active TSS	Right Atrium	heart
29	chr8:38855000-38857600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:38855200-38857200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
31	chr8:38855200-38857600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:38855200-38864600	Weak transcription	Spleen	Spleen
33	chr8:38855400-38857600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:38855600-38857400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr8:38855800-38858200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:38855800-38881600	Weak transcription	Fetal Kidney	kidney
37	chr8:38856000-38857200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:38856000-38857200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr8:38856000-38857200	Active TSS	HepG2	liver
40	chr8:38856200-38858000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:38856400-38857200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr8:38856400-38857200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr8:38856600-38857200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr8:38856600-38857600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:38856600-38857600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr8:38856600-38857600	Enhancers	Brain Substantia Nigra	brain
47	chr8:38856600-38857600	Weak transcription	Esophagus	oesophagus
48	chr8:38856600-38857600	Weak transcription	Lung	lung
49	chr8:38856600-38857600	Weak transcription	Ovary	ovary
50	chr8:38856600-38857600	Weak transcription	Pancreas	Pancrea

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