Variant report

Variant	rs4871067
Chromosome Location	chr8:121477258-121477259
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121471060..121472875-chr8:121476214..121479211,2	K562	blood:

Variant related genes	Relation type
ENSG00000172167	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10098436	0.96[ASN][1000 genomes]
rs10109431	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10955971	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1129080	0.91[ASN][1000 genomes]
rs1129353	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11780830	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781786	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12545308	0.91[ASN][1000 genomes]
rs12546007	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12674727	0.99[ASN][1000 genomes]
rs12675235	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12676755	0.96[ASN][1000 genomes]
rs12678531	1.00[ASN][1000 genomes]
rs12678788	0.98[ASN][1000 genomes]
rs12680641	0.96[ASN][1000 genomes]
rs13252173	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13263962	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16893976	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2429	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4242313	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4448321	0.93[ASN][1000 genomes]
rs4452825	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4463470	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4565499	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4573322	0.93[ASN][1000 genomes]
rs4590476	0.91[ASN][1000 genomes]
rs61203971	0.98[ASN][1000 genomes]
rs61424477	0.87[ASN][1000 genomes]
rs6415474	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469920	0.89[ASN][1000 genomes]
rs6469921	0.89[ASN][1000 genomes]
rs6984090	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6985660	0.98[ASN][1000 genomes]
rs7002445	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7015443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73315165	0.98[ASN][1000 genomes]
rs73315171	0.98[ASN][1000 genomes]
rs73315174	1.00[ASN][1000 genomes]
rs73315182	1.00[ASN][1000 genomes]
rs7812590	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7814949	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7818026	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7819405	0.91[ASN][1000 genomes]
rs7826906	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7832933	0.98[ASN][1000 genomes]
rs7834496	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7835198	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7835363	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9297619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9650081	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891420	chr8:121194900-121561369	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1033386	chr8:121369943-121501239	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv470235	chr8:121437222-121526747	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv519152	chr8:121458457-121571266	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv982116	chr8:121475460-121479959	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121458000-121478400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:121458000-121480800	Weak transcription	Lung	lung
3	chr8:121458000-121480800	Weak transcription	Pancreas	Pancrea
4	chr8:121458000-121510400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:121458200-121479600	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr8:121458200-121480600	Weak transcription	Left Ventricle	heart
7	chr8:121458200-121483000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:121458200-121505200	Weak transcription	Placenta	Placenta
9	chr8:121458400-121480600	Weak transcription	Fetal Muscle Leg	muscle
10	chr8:121458400-121481800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr8:121458400-121482600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr8:121458400-121482800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr8:121458400-121484400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr8:121458400-121484600	Weak transcription	Small Intestine	intestine
15	chr8:121458400-121485400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:121458400-121488000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:121458400-121490200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr8:121458400-121501000	Weak transcription	Ovary	ovary
19	chr8:121458600-121480000	Weak transcription	Brain Hippocampus Middle	brain
20	chr8:121458600-121480800	Weak transcription	Fetal Intestine Large	intestine
21	chr8:121458600-121482800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr8:121458600-121483400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr8:121458600-121484000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr8:121458600-121484000	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr8:121458600-121484000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr8:121458600-121484200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr8:121458600-121484400	Weak transcription	Brain Substantia Nigra	brain
28	chr8:121458600-121486200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr8:121458600-121487200	Weak transcription	Fetal Brain Female	brain
30	chr8:121458600-121504200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr8:121458600-121516400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr8:121458800-121479400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr8:121458800-121480000	Weak transcription	Primary B cells from cord blood	blood
34	chr8:121458800-121483200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:121458800-121484000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr8:121458800-121484800	Weak transcription	Adipose Nuclei	Adipose
37	chr8:121458800-121489000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr8:121458800-121491000	Weak transcription	HMEC	breast
39	chr8:121458800-121504000	Weak transcription	Fetal Heart	heart
40	chr8:121458800-121510200	Weak transcription	Brain Germinal Matrix	brain
41	chr8:121458800-121510400	Weak transcription	NHLF	lung
42	chr8:121458800-121539000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:121459000-121485600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr8:121459000-121485600	Weak transcription	K562	blood
45	chr8:121459000-121486000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr8:121459000-121528600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:121459600-121482800	Weak transcription	A549	lung
48	chr8:121459600-121484800	Weak transcription	GM12878-XiMat	blood
49	chr8:121461000-121491000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr8:121463000-121480000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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