Variant report

Variant	rs4497397
Chromosome Location	chr11:8129751-8129752
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8126548..8128280-chr11:8129234..8131719,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10431030	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10769869	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10769873	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10769874	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10769876	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10769878	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10839976	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10839982	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10839984	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10839985	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10839988	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11041742	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11041757	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11041773	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11607166	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3750955	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4331082	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4340037	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4343012	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4384376	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4397840	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7110509	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7941531	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]

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	esv1829170	chr11:8068594-8216369	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv428249	chr11:8068594-8216369	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8112600-8129800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:8114400-8130000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:8114400-8133600	Weak transcription	Liver	Liver
4	chr11:8116200-8132000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr11:8117000-8157600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr11:8118000-8132600	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr11:8118200-8132400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr11:8120400-8132400	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr11:8120600-8148400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:8120800-8133200	Weak transcription	NHDF-Ad	bronchial
11	chr11:8121000-8131000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr11:8121600-8131600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr11:8123000-8132400	Weak transcription	Fetal Brain Male	brain
14	chr11:8123200-8130600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:8123600-8130000	Weak transcription	Placenta	Placenta
16	chr11:8123600-8131200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:8123600-8132400	Weak transcription	Colon Smooth Muscle	Colon
18	chr11:8124000-8131800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr11:8124000-8135600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:8124000-8139600	Weak transcription	Spleen	Spleen
21	chr11:8124200-8130800	Weak transcription	Brain Hippocampus Middle	brain
22	chr11:8124200-8136400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:8124400-8135400	Weak transcription	Gastric	stomach
24	chr11:8124600-8130800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:8124600-8133800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr11:8124800-8130800	Weak transcription	Fetal Intestine Small	intestine
27	chr11:8124800-8132800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr11:8124800-8136000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:8125200-8131000	Weak transcription	Brain Angular Gyrus	brain
30	chr11:8125800-8131000	Weak transcription	Fetal Intestine Large	intestine
31	chr11:8125800-8131600	Weak transcription	Esophagus	oesophagus
32	chr11:8126000-8131400	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr11:8126000-8132000	Weak transcription	Fetal Muscle Leg	muscle
34	chr11:8126200-8131800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr11:8126200-8133400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr11:8126400-8130200	Weak transcription	Brain Anterior Caudate	brain
37	chr11:8126400-8130400	Weak transcription	Osteobl	bone
38	chr11:8126400-8160600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr11:8126800-8130200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr11:8126800-8130800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:8126800-8131600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr11:8126800-8132000	Weak transcription	Adipose Nuclei	Adipose
43	chr11:8126800-8135600	Strong transcription	Primary B cells from peripheral blood	blood
44	chr11:8127400-8130400	Weak transcription	A549	lung
45	chr11:8127600-8129800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr11:8127600-8130400	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr11:8127600-8132200	Weak transcription	Fetal Lung	lung
48	chr11:8128000-8131200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr11:8128200-8132400	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr11:8128200-8133600	Enhancers	Skeletal Muscle Male	skeletal muscle

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