Variant report

Variant	rs12335186
Chromosome Location	chr8:20059960-20059961
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:20049831..20052925-chr8:20057041..20061103,3	K562	blood:
2	chr8:20053730..20056872-chr8:20057079..20060453,3	MCF-7	breast:
3	chr8:20059849..20062019-chr8:20071866..20073490,2	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	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10156354	0.81[EUR][1000 genomes]
rs11778205	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13253777	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1390943	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2410638	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4922139	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs974994	0.81[AMR][1000 genomes];0.86[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:125 , 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	chr8:20056200-20060800	Weak transcription	Placenta	Placenta
4	chr8:20056200-20063000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:20056200-20063000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:20056200-20068200	Weak transcription	Colonic Mucosa	Colon
7	chr8:20056200-20072200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:20056400-20060000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr8:20056400-20060600	Weak transcription	Right Ventricle	heart
10	chr8:20056400-20060800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr8:20056400-20061000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr8:20056400-20063600	Weak transcription	Primary B cells from peripheral blood	blood
13	chr8:20056400-20063800	Weak transcription	Fetal Stomach	stomach
14	chr8:20056400-20066400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr8:20056400-20066600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr8:20056400-20089600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr8:20056600-20061400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:20056600-20063800	Weak transcription	Fetal Muscle Leg	muscle
19	chr8:20056800-20060200	Weak transcription	Brain Substantia Nigra	brain
20	chr8:20056800-20060600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr8:20056800-20063600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr8:20056800-20066400	Weak transcription	Fetal Kidney	kidney
23	chr8:20057000-20060800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:20057000-20061400	Enhancers	Adipose Nuclei	Adipose
25	chr8:20057000-20061800	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr8:20057000-20063600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr8:20057000-20063600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:20057000-20066400	Weak transcription	Thymus	Thymus
29	chr8:20057000-20066600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr8:20057000-20066600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr8:20057000-20066800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr8:20057000-20066800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr8:20057600-20060800	Weak transcription	Pancreas	Pancrea
34	chr8:20057600-20061400	Enhancers	NHDF-Ad	bronchial
35	chr8:20057600-20062000	Enhancers	Fetal Intestine Small	intestine
36	chr8:20057600-20062000	Enhancers	Osteobl	bone
37	chr8:20057600-20062400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr8:20057600-20062800	Enhancers	Fetal Intestine Large	intestine
39	chr8:20057600-20063400	Weak transcription	Lung	lung
40	chr8:20057800-20060000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr8:20057800-20060000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:20057800-20061000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr8:20057800-20061200	Enhancers	Brain Angular Gyrus	brain
44	chr8:20057800-20061600	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr8:20057800-20062200	Weak transcription	Fetal Thymus	thymus
46	chr8:20058000-20061400	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr8:20058000-20068000	Weak transcription	Spleen	Spleen
48	chr8:20058200-20061000	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr8:20058200-20061000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr8:20058200-20061600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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