Variant report

Variant	rs4871572
Chromosome Location	chr8:126158976-126158977
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126146345..126147977-chr8:126156766..126159628,2	MCF-7	breast:
2	chr8:126152312..126154519-chr8:126157472..126159788,3	K562	blood:
3	chr8:126149993..126152302-chr8:126156808..126159552,2	K562	blood:
4	chr8:126147030..126148722-chr8:126158702..126160766,2	K562	blood:
5	chr8:126152361..126154519-chr8:126157472..126159088,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10106942	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11995484	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12542820	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2384914	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4300023	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4330708	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4871574	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7017478	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7831515	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7836506	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7836761	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9297712	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv917158	chr8:126101990-126255266	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
4	nsv1022954	chr8:126117811-126180331	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126117800-126160400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr8:126118000-126191800	Weak transcription	Thymus	Thymus
3	chr8:126137600-126213600	Weak transcription	Fetal Stomach	stomach
4	chr8:126138000-126163000	Weak transcription	Fetal Kidney	kidney
5	chr8:126138000-126163600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr8:126138000-126191000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr8:126138000-126197800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr8:126138200-126160200	Weak transcription	Spleen	Spleen
9	chr8:126138200-126170400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr8:126138200-126200400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:126138400-126200200	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr8:126140400-126162200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr8:126141600-126159800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr8:126142600-126163000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr8:126142600-126231400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr8:126142800-126162000	Weak transcription	HSMM	muscle
17	chr8:126143000-126193200	Weak transcription	Left Ventricle	heart
18	chr8:126143200-126162200	Weak transcription	GM12878-XiMat	blood
19	chr8:126143200-126180600	Weak transcription	Fetal Muscle Leg	muscle
20	chr8:126143200-126186800	Weak transcription	Adipose Nuclei	Adipose
21	chr8:126143400-126162200	Weak transcription	HSMMtube	muscle
22	chr8:126143400-126163800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:126143600-126160200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr8:126143800-126160000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr8:126143800-126163800	Weak transcription	Fetal Lung	lung
26	chr8:126144400-126162000	Weak transcription	Hela-S3	cervix
27	chr8:126144600-126163800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr8:126144600-126168000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:126145000-126163000	Weak transcription	Dnd41	blood
30	chr8:126146400-126160200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr8:126151400-126160200	Weak transcription	Gastric	stomach
32	chr8:126151600-126161800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:126154000-126175600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr8:126154200-126160000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr8:126154200-126160200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:126154200-126161200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr8:126154200-126163400	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr8:126154400-126163400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr8:126154400-126166600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr8:126155400-126162200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:126155800-126175800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr8:126156200-126160000	Weak transcription	HUVEC	blood vessel
43	chr8:126156200-126162200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr8:126156200-126162200	Weak transcription	Osteobl	bone
45	chr8:126156200-126163400	Weak transcription	NH-A	brain
46	chr8:126156600-126160200	Weak transcription	Aorta	Aorta
47	chr8:126156600-126161600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr8:126156600-126162200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr8:126156600-126163800	Weak transcription	HMEC	breast
50	chr8:126156600-126180600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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