Variant report

Variant	rs2875905
Chromosome Location	chr8:120591785-120591786
allele	A/C
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	TCF12	chr8:120590668-120592487	SK-N-SH	brain:	n/a	chr8:120592172-120592179
2	E2F4	chr8:120591219-120591792	MCF10A-Er-Src	breast:	n/a	n/a
3	TEAD4	chr8:120590819-120592288	SK-N-SH	brain:	n/a	n/a
4	JUND	chr8:120590638-120593107	SK-N-SH	brain:	n/a	chr8:120592817-120592827 chr8:120592818-120592826 chr8:120592079-120592087 chr8:120592077-120592088 chr8:120592079-120592086 chr8:120592079-120592088 chr8:120592816-120592828 chr8:120592818-120592825 chr8:120592078-120592087 chr8:120592229-120592241 chr8:120592818-120592826
5	EP300	chr8:120590723-120592350	SK-N-SH	brain:	n/a	chr8:120592079-120592088 chr8:120592078-120592087
6	PBX3	chr8:120590770-120592332	SK-N-SH	brain:	n/a	n/a
7	MAX	chr8:120590959-120591806	SK-N-SH	brain:	n/a	chr8:120591248-120591257 chr8:120591247-120591257 chr8:120591248-120591258 chr8:120591247-120591258 chr8:120591247-120591256 chr8:120591249-120591256
8	MAX	chr8:120590900-120591787	SK-N-SH	brain:	n/a	chr8:120591248-120591257 chr8:120591247-120591257 chr8:120591248-120591258 chr8:120591247-120591258 chr8:120591247-120591256 chr8:120591249-120591256
9	FOXM1	chr8:120590718-120592341	SK-N-SH	brain:	n/a	n/a
10	NFIC	chr8:120590647-120592460	SK-N-SH	brain:	n/a	n/a
11	CEBPB	chr8:120591131-120592004	IMR90	lung:	n/a	n/a
12	EP300	chr8:120590702-120592232	SK-N-SH	brain:	n/a	chr8:120592079-120592088 chr8:120592078-120592087
13	GATA3	chr8:120590696-120592453	SK-N-SH	brain:	n/a	chr8:120591425-120591437 chr8:120592320-120592336 chr8:120592324-120592333 chr8:120591322-120591332 chr8:120592324-120592331
14	FOS	chr8:120591083-120592264	MCF10A-Er-Src	breast:	n/a	chr8:120592079-120592087 chr8:120592079-120592086 chr8:120592079-120592088 chr8:120592078-120592087 chr8:120592229-120592241
15	NFIC	chr8:120590876-120591835	SK-N-SH	brain:	n/a	n/a
16	JUND	chr8:120590859-120592427	SK-N-SH	brain:	n/a	chr8:120592079-120592087 chr8:120592077-120592088 chr8:120592079-120592086 chr8:120592079-120592088 chr8:120592078-120592087 chr8:120592229-120592241
17	FOSL2	chr8:120591756-120592390	SK-N-SH	brain:	n/a	chr8:120592079-120592087 chr8:120592079-120592086 chr8:120592079-120592088 chr8:120592078-120592087 chr8:120592229-120592241
18	TCF12	chr8:120590761-120592440	SK-N-SH	brain:	n/a	chr8:120592172-120592179
19	STAT3	chr8:120591751-120592178	MCF10A-Er-Src	breast:	n/a	chr8:120592078-120592087 chr8:120592079-120592088
20	FOS	chr8:120591106-120592270	MCF10A-Er-Src	breast:	n/a	chr8:120592079-120592087 chr8:120592079-120592086 chr8:120592079-120592088 chr8:120592078-120592087 chr8:120592229-120592241
21	GATA3	chr8:120590589-120593105	SK-N-SH	brain:	n/a	chr8:120591425-120591437 chr8:120592320-120592336 chr8:120592324-120592333 chr8:120591322-120591332 chr8:120592324-120592331
22	JUND	chr8:120591755-120592364	SK-N-SH	brain:	n/a	chr8:120592079-120592087 chr8:120592077-120592088 chr8:120592079-120592086 chr8:120592079-120592088 chr8:120592078-120592087 chr8:120592229-120592241
23	STAT3	chr8:120591089-120593242	MCF10A-Er-Src	breast:	n/a	chr8:120592078-120592087 chr8:120592079-120592088 chr8:120591326-120591334 chr8:120592433-120592444
24	PBX3	chr8:120590742-120592399	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120591734..120593334-chr8:120594765..120597476,2	K562	blood:

Variant related genes	Relation type
ENPP2	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10097147	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10097368	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10097501	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10098410	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10110878	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10112316	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11991811	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.84[EUR][1000 genomes]
rs13277188	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1374099	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1374100	0.89[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.83[YRI][hapmap];0.92[AFR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1374101	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2289888	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2289889	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4520196	0.92[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4871360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871401	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6986760	0.92[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6987103	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6987232	0.89[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7007302	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7017581	0.92[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs755175	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7822457	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7823511	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9297599	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs935360	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120565000-120595200	Weak transcription	Fetal Stomach	stomach
2	chr8:120566000-120596800	Weak transcription	Spleen	Spleen
3	chr8:120566000-120609200	Weak transcription	Aorta	Aorta
4	chr8:120568000-120595400	Weak transcription	Fetal Thymus	thymus
5	chr8:120568200-120598000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:120568600-120594000	Weak transcription	Primary T cells from cord blood	blood
7	chr8:120569600-120613600	Weak transcription	Small Intestine	intestine
8	chr8:120571400-120592400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr8:120572200-120614200	Weak transcription	Fetal Intestine Large	intestine
10	chr8:120573000-120607200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr8:120576000-120593600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr8:120578800-120595200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:120579400-120597000	Weak transcription	Fetal Intestine Small	intestine
14	chr8:120580000-120595000	Weak transcription	Brain Anterior Caudate	brain
15	chr8:120585000-120595000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr8:120587000-120591800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:120587000-120594200	Weak transcription	Ovary	ovary
18	chr8:120587000-120594600	Weak transcription	Placenta	Placenta
19	chr8:120587000-120598400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:120587600-120595600	Weak transcription	Brain Angular Gyrus	brain
21	chr8:120589000-120595600	Strong transcription	Duodenum Mucosa	Duodenum
22	chr8:120589000-120598000	Strong transcription	Fetal Lung	lung
23	chr8:120589200-120595000	Strong transcription	Adipose Nuclei	Adipose
24	chr8:120589400-120591800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr8:120589600-120591800	Strong transcription	Liver	Liver
26	chr8:120589600-120603000	Genic enhancers	NHDF-Ad	bronchial
27	chr8:120590600-120594200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:120590800-120592000	Genic enhancers	Brain Hippocampus Middle	brain
29	chr8:120590800-120594200	Weak transcription	Thymus	Thymus
30	chr8:120590800-120596200	Enhancers	Muscle Satellite Cultured Cells	--
31	chr8:120591000-120591800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr8:120591000-120592200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:120591000-120593200	Enhancers	HSMM	muscle
34	chr8:120591000-120593600	Enhancers	NH-A	brain
35	chr8:120591000-120594000	Enhancers	HMEC	breast
36	chr8:120591000-120594200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr8:120591000-120605400	Weak transcription	Fetal Brain Male	brain
38	chr8:120591200-120592000	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr8:120591200-120592200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:120591200-120592800	Enhancers	NHEK	skin
41	chr8:120591200-120594400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:120591400-120591800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:120591400-120591800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:120591400-120591800	Enhancers	Fetal Muscle Leg	muscle
45	chr8:120591400-120591800	Flanking Active TSS	NHLF	lung
46	chr8:120591400-120591800	Flanking Active TSS	Osteobl	bone
47	chr8:120591400-120592000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr8:120591400-120592800	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr8:120591400-120592800	Enhancers	HSMMtube	muscle
50	chr8:120591400-120593000	Enhancers	Hela-S3	cervix

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