Variant report

Variant	rs7947944
Chromosome Location	chr11:8020600-8020601
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:8017899..8020620-chr11:8022528..8024447,3	K562	blood:
2	chr11:8010094..8012812-chr11:8018945..8021988,4	K562	blood:
3	chr11:8019325..8021766-chr11:8030520..8033012,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1043738	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56295342	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72847449	1.00[EUR][1000 genomes]
rs72847456	1.00[EUR][1000 genomes]
rs72847468	1.00[EUR][1000 genomes]
rs72847469	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72847472	1.00[EUR][1000 genomes]
rs7929026	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7939213	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052808	chr11:8011647-8129191	Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8010600-8020600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
2	chr11:8010600-8020800	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr11:8010600-8022000	Strong transcription	HUES6 Cell Line	embryonic stem cell
4	chr11:8010600-8022400	Strong transcription	Primary B cells from cord blood	blood
5	chr11:8010800-8021400	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:8010800-8021400	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr11:8010800-8021600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr11:8010800-8022000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:8010800-8022000	Strong transcription	Primary B cells from peripheral blood	blood
10	chr11:8010800-8022000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:8010800-8033400	Weak transcription	Right Atrium	heart
12	chr11:8011000-8021800	Strong transcription	Fetal Thymus	thymus
13	chr11:8011200-8022800	Strong transcription	HSMM	muscle
14	chr11:8011400-8020600	Strong transcription	HSMMtube	muscle
15	chr11:8011400-8021200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:8011400-8022000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:8011400-8022000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:8011400-8022200	Strong transcription	HMEC	breast
19	chr11:8011600-8022200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:8011800-8020600	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr11:8011800-8022000	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr11:8011800-8022000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:8011800-8022000	Strong transcription	Osteobl	bone
24	chr11:8012000-8022000	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr11:8012000-8022200	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr11:8012200-8022000	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr11:8012400-8020600	Strong transcription	Dnd41	blood
28	chr11:8012800-8020600	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr11:8012800-8020600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr11:8012800-8020800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr11:8012800-8020800	Strong transcription	Fetal Intestine Large	intestine
32	chr11:8012800-8021400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr11:8012800-8022000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:8012800-8022000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:8012800-8022000	Strong transcription	Duodenum Mucosa	Duodenum
36	chr11:8012800-8022000	Strong transcription	Left Ventricle	heart
37	chr11:8012800-8022200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:8012800-8022200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr11:8012800-8022200	Strong transcription	Fetal Lung	lung
40	chr11:8012800-8022200	Strong transcription	GM12878-XiMat	blood
41	chr11:8012800-8022200	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr11:8012800-8022400	Strong transcription	Liver	Liver
43	chr11:8012800-8022600	Strong transcription	A549	lung
44	chr11:8012800-8022800	Strong transcription	Fetal Muscle Leg	muscle
45	chr11:8013000-8020600	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr11:8013000-8020800	Strong transcription	Gastric	stomach
47	chr11:8013000-8020800	Strong transcription	Stomach Smooth Muscle	stomach
48	chr11:8013000-8021200	Strong transcription	Placenta	Placenta
49	chr11:8013000-8021400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:8013000-8021800	Strong transcription	Fetal Brain Female	brain

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