Variant report

Variant	rs2410638
Chromosome Location	chr8:20063137-20063138
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:20052561..20055139-chr8:20062405..20064613,2	K562	blood:
2	chr8:20054589..20056207-chr8:20061652..20063617,2	MCF-7	breast:
3	chr8:20061426..20067342-chr8:20067355..20071432,7	K562	blood:

Variant related genes	Relation type
ENSG00000147416	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10095373	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10156354	0.81[EUR][1000 genomes]
rs11778205	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12335186	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13253777	1.00[ASW][hapmap];0.92[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.89[MKK][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1390943	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4922139	0.87[CEU][hapmap];0.86[CHB][hapmap];0.97[GIH][hapmap];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs974994	0.82[AMR][1000 genomes];0.88[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	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1015598	chr8:19963102-20088510	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv539523	chr8:19963102-20088510	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv6107	chr8:20056154-20100794	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20056000-20063800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr8:20056000-20066200	Weak transcription	Esophagus	oesophagus
3	chr8:20056200-20068200	Weak transcription	Colonic Mucosa	Colon
4	chr8:20056200-20072200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:20056400-20063600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr8:20056400-20063800	Weak transcription	Fetal Stomach	stomach
7	chr8:20056400-20066400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr8:20056400-20066600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr8:20056400-20089600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr8:20056600-20063800	Weak transcription	Fetal Muscle Leg	muscle
11	chr8:20056800-20063600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr8:20056800-20066400	Weak transcription	Fetal Kidney	kidney
13	chr8:20057000-20063600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr8:20057000-20063600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:20057000-20066400	Weak transcription	Thymus	Thymus
16	chr8:20057000-20066600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr8:20057000-20066600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr8:20057000-20066800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr8:20057000-20066800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr8:20057600-20063400	Weak transcription	Lung	lung
21	chr8:20058000-20068000	Weak transcription	Spleen	Spleen
22	chr8:20058600-20063600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr8:20058600-20066800	Weak transcription	A549	lung
24	chr8:20059000-20064000	Weak transcription	HMEC	breast
25	chr8:20059200-20066800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr8:20059200-20067800	Weak transcription	Hela-S3	cervix
27	chr8:20059600-20063600	Weak transcription	Psoas Muscle	Psoas
28	chr8:20059600-20063600	Weak transcription	HepG2	liver
29	chr8:20059600-20066800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr8:20059600-20070000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr8:20059800-20063600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:20059800-20063600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr8:20059800-20066400	Weak transcription	Aorta	Aorta
34	chr8:20059800-20066600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr8:20059800-20066600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr8:20060000-20066400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr8:20060000-20066600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr8:20060600-20066800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr8:20060600-20068000	Weak transcription	GM12878-XiMat	blood
40	chr8:20060800-20063600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:20061000-20063600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:20061000-20064000	Genic enhancers	Monocytes-CD14+_RO01746	blood
43	chr8:20061000-20066600	Weak transcription	Brain Germinal Matrix	brain
44	chr8:20061000-20066600	Weak transcription	Fetal Brain Female	brain
45	chr8:20061000-20066800	Weak transcription	Colon Smooth Muscle	Colon
46	chr8:20061000-20071000	Weak transcription	Fetal Brain Male	brain
47	chr8:20061200-20066600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr8:20061400-20063200	Weak transcription	Placenta	Placenta
49	chr8:20061400-20063600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr8:20061400-20063600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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