Variant report

Variant	rs4738558
Chromosome Location	chr8:57897659-57897660
allele	A/G
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	chr8:57896920-57898515	HepG2	liver:	n/a	n/a
2	EP300	chr8:57897566-57897759	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:57897401..57901243-chr8:57902885..57906545,5	MCF-7	breast:
2	chr8:57896099..57897893-chr8:57899981..57902361,2	K562	blood:
3	chr8:57897319..57899698-chr8:57903198..57906434,3	K562	blood:

Variant related genes	Relation type
IMPAD1	TF binding region
ENSG00000104331	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10003	0.90[ASW][hapmap];0.83[CEU][hapmap]
rs1044731	0.90[ASW][hapmap];0.83[CEU][hapmap]
rs10504211	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10504212	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10808910	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10958514	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];0.88[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10958515	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11778484	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11779511	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12056416	0.83[CEU][hapmap]
rs12678538	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13258916	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13275472	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13277865	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1396115	0.91[ASW][hapmap];0.85[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1396116	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1396117	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1605556	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16921462	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16921483	0.83[CEU][hapmap]
rs2135987	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];0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34020186	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36065736	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55659168	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs967930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029443	chr8:57748114-58057656	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv3430321	chr8:57858417-58055129	Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1027125	chr8:57891279-58095884	Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:57866400-57902600	Weak transcription	Pancreas	Pancrea
2	chr8:57874800-57903800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr8:57874800-57904400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:57876600-57903200	Weak transcription	Fetal Brain Male	brain
5	chr8:57876600-57904000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:57877200-57905200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:57879000-57904600	Weak transcription	Fetal Intestine Small	intestine
8	chr8:57880400-57904600	Weak transcription	Fetal Stomach	stomach
9	chr8:57889400-57897800	Weak transcription	Lung	lung
10	chr8:57890400-57902800	Weak transcription	NHEK	skin
11	chr8:57890600-57898000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr8:57890600-57902200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr8:57890800-57903600	Weak transcription	Fetal Kidney	kidney
14	chr8:57890800-57904000	Weak transcription	NH-A	brain
15	chr8:57891000-57904600	Weak transcription	Colonic Mucosa	Colon
16	chr8:57891400-57903600	Weak transcription	Fetal Heart	heart
17	chr8:57891600-57903000	Weak transcription	Thymus	Thymus
18	chr8:57891600-57904600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr8:57892000-57903600	Weak transcription	Brain Germinal Matrix	brain
20	chr8:57892400-57898200	Weak transcription	GM12878-XiMat	blood
21	chr8:57892400-57901000	Weak transcription	Hela-S3	cervix
22	chr8:57892400-57902200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr8:57892400-57903200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr8:57892600-57902600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:57892600-57903000	Weak transcription	Fetal Brain Female	brain
26	chr8:57892600-57903600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:57892600-57903600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr8:57892800-57898200	Weak transcription	HUVEC	blood vessel
29	chr8:57892800-57898600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr8:57892800-57899600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr8:57892800-57899600	Weak transcription	Liver	Liver
32	chr8:57892800-57899800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr8:57892800-57900000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr8:57892800-57900800	Weak transcription	Primary B cells from cord blood	blood
35	chr8:57892800-57900800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr8:57892800-57901000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr8:57892800-57901000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:57892800-57901000	Weak transcription	Dnd41	blood
39	chr8:57892800-57902000	Weak transcription	Primary B cells from peripheral blood	blood
40	chr8:57892800-57902400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:57892800-57902600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr8:57892800-57902800	Weak transcription	HMEC	breast
43	chr8:57892800-57903000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:57892800-57903000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr8:57892800-57903600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr8:57892800-57903600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr8:57892800-57903600	Weak transcription	Fetal Lung	lung
48	chr8:57892800-57904200	Weak transcription	Osteobl	bone
49	chr8:57892800-57904400	Weak transcription	HSMM	muscle
50	chr8:57892800-57904600	Weak transcription	Fetal Intestine Large	intestine

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