Variant report

Variant	rs11994861
Chromosome Location	chr8:126266244-126266245
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:126246905..126249499-chr8:126264857..126266632,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10110845	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10283134	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10956233	0.85[CEU][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12681602	0.89[JPT][hapmap]
rs4006772	0.93[CEU][hapmap];0.88[CHB][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4601329	0.89[JPT][hapmap]
rs868227	0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126239600-126274000	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr8:126240400-126267000	Weak transcription	Primary T cells from cord blood	blood
3	chr8:126243200-126267000	Weak transcription	Brain Angular Gyrus	brain
4	chr8:126245600-126269600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:126251400-126272000	Weak transcription	Fetal Intestine Small	intestine
6	chr8:126254000-126270400	Weak transcription	Hela-S3	cervix
7	chr8:126255200-126268600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:126255200-126271600	Weak transcription	Right Atrium	heart
9	chr8:126255400-126287800	Weak transcription	Primary B cells from cord blood	blood
10	chr8:126256200-126271600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:126256400-126271800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:126256600-126268800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:126257400-126273600	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr8:126260600-126269400	Weak transcription	Fetal Lung	lung
15	chr8:126261400-126286000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr8:126261600-126272600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr8:126262200-126268800	Weak transcription	Pancreas	Pancrea
18	chr8:126262200-126288200	Weak transcription	Ovary	ovary
19	chr8:126263400-126279000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr8:126263600-126267400	Weak transcription	Primary B cells from peripheral blood	blood
21	chr8:126264200-126268200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr8:126264400-126268000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr8:126264400-126272000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr8:126264800-126310600	Weak transcription	Aorta	Aorta
25	chr8:126265000-126266400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr8:126265000-126267800	Enhancers	H1 Cell Line	embryonic stem cell
27	chr8:126265000-126268000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr8:126265200-126267800	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr8:126265400-126267000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr8:126265400-126267800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr8:126265600-126266400	Flanking Active TSS	GM12878-XiMat	blood
32	chr8:126265600-126270600	Weak transcription	Brain Substantia Nigra	brain
33	chr8:126265600-126274800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr8:126265600-126296600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:126265800-126272000	Weak transcription	Adipose Nuclei	Adipose
36	chr8:126266000-126267000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:126266000-126267000	Weak transcription	Brain Hippocampus Middle	brain
38	chr8:126266000-126267800	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr8:126266000-126268000	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr8:126266000-126268000	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr8:126266000-126273400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:126266200-126266600	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr8:126266200-126267400	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr8:126266200-126268600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr8:126266200-126270800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr8:126266200-126274000	Weak transcription	Fetal Thymus	thymus

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