Variant report

Variant	rs4871375
Chromosome Location	chr8:124437289-124437290
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	chr8:124437005-124437346	K562	blood:	n/a	n/a
2	CEBPB	chr8:124437249-124437399	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:124429705..124433349-chr8:124436919..124438611,3	K562	blood:
2	chr8:124428346..124430451-chr8:124434801..124437480,2	MCF-7	breast:
3	chr8:124435837..124438312-chr8:124449085..124450933,2	MCF-7	breast:

Variant related genes	Relation type
WDYHV1	TF binding region
ENSG00000156795	Chromatin interaction
ENSG00000156802	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10087527	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10089561	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10110826	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10216826	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956124	1.00[CHB][hapmap]
rs10956129	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956138	1.00[CHB][hapmap]
rs12234925	0.88[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12547295	1.00[CHB][hapmap]
rs16898247	1.00[CHB][hapmap]
rs17254013	1.00[CHB][hapmap]
rs1817527	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2891717	1.00[CHB][hapmap]
rs35680076	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3857956	1.00[CHB][hapmap]
rs4541891	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871365	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871379	0.90[EUR][1000 genomes]
rs4871381	0.90[EUR][1000 genomes]
rs6470148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470149	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6470151	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984935	0.83[EUR][1000 genomes]
rs6989927	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6998407	1.00[CHB][hapmap]
rs7004908	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7005105	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7341642	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7822727	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7838103	1.00[CHB][hapmap]
rs7838923	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7841922	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs900628	1.00[CHB][hapmap]
rs9297669	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831449	chr8:124276685-124471740	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3415547	chr8:124420820-124444289	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124429800-124440800	Weak transcription	Aorta	Aorta
2	chr8:124430000-124440400	Weak transcription	Fetal Stomach	stomach
3	chr8:124430000-124440600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:124430000-124440600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr8:124430000-124440800	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr8:124430000-124440800	Weak transcription	Left Ventricle	heart
7	chr8:124430000-124441000	Weak transcription	Lung	lung
8	chr8:124430000-124441400	Weak transcription	Primary B cells from cord blood	blood
9	chr8:124430000-124441600	Weak transcription	Thymus	Thymus
10	chr8:124430000-124443600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr8:124430000-124443800	Weak transcription	Esophagus	oesophagus
12	chr8:124430000-124443800	Weak transcription	Right Ventricle	heart
13	chr8:124430000-124449200	Weak transcription	Small Intestine	intestine
14	chr8:124430000-124450200	Weak transcription	Brain Germinal Matrix	brain
15	chr8:124430200-124440600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr8:124430200-124440600	Weak transcription	Adipose Nuclei	Adipose
17	chr8:124430200-124440800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr8:124430200-124441000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr8:124430200-124441000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:124430200-124441000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:124430200-124441000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:124430200-124441000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:124430200-124441200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr8:124430200-124441200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr8:124430200-124441400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:124430200-124441400	Weak transcription	Fetal Muscle Leg	muscle
27	chr8:124430200-124441400	Weak transcription	Placenta	Placenta
28	chr8:124430200-124441400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr8:124430200-124441400	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr8:124430200-124441600	Weak transcription	Fetal Brain Female	brain
31	chr8:124430200-124442200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr8:124430200-124442200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr8:124430200-124442600	Weak transcription	Gastric	stomach
34	chr8:124430200-124443600	Weak transcription	Ovary	ovary
35	chr8:124430200-124443600	Weak transcription	NH-A	brain
36	chr8:124430200-124443800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:124430200-124443800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:124430200-124443800	Weak transcription	Primary T cells from cord blood	blood
39	chr8:124430200-124443800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr8:124430200-124443800	Weak transcription	Pancreas	Pancrea
41	chr8:124430200-124443800	Weak transcription	Spleen	Spleen
42	chr8:124430200-124443800	Weak transcription	HSMM	muscle
43	chr8:124430200-124447000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr8:124430200-124448600	Weak transcription	NHEK	skin
45	chr8:124430200-124448600	Weak transcription	NHLF	lung
46	chr8:124430200-124448800	Weak transcription	NHDF-Ad	bronchial
47	chr8:124430200-124449000	Weak transcription	Osteobl	bone
48	chr8:124430200-124449200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr8:124430200-124449200	Weak transcription	HUVEC	blood vessel
50	chr8:124430200-124455400	Weak transcription	Fetal Kidney	kidney

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