Variant report

Variant	rs2157484
Chromosome Location	chr6:166961912-166961913
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:166959907..166962150-chr6:166966800..166968664,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1003857	0.82[EUR][1000 genomes]
rs2157483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3799633	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	nsv886941	chr6:166907173-166996991	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv5592	chr6:166958317-167002951	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166935400-166966400	Weak transcription	NH-A	brain
2	chr6:166947400-166969400	Weak transcription	Aorta	Aorta
3	chr6:166949800-166964800	Weak transcription	Fetal Intestine Small	intestine
4	chr6:166952400-166969000	Weak transcription	Psoas Muscle	Psoas
5	chr6:166953400-166964600	Weak transcription	Primary T cells from cord blood	blood
6	chr6:166953400-166967400	Weak transcription	Fetal Lung	lung
7	chr6:166954200-166965000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:166954400-166962000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:166954800-166965000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr6:166955000-166967000	Weak transcription	Brain Substantia Nigra	brain
11	chr6:166955200-166962400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr6:166955200-166970600	Weak transcription	Pancreas	Pancrea
13	chr6:166955200-166970600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr6:166956000-166962400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:166956000-166964000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:166956000-166966400	Weak transcription	Adipose Nuclei	Adipose
17	chr6:166956000-166966600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr6:166956000-166967800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr6:166956000-166969000	Weak transcription	Gastric	stomach
20	chr6:166956200-166967400	Weak transcription	Ovary	ovary
21	chr6:166956400-166966400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:166956600-166966400	Weak transcription	HMEC	breast
23	chr6:166956800-166966200	Weak transcription	HSMM	muscle
24	chr6:166956800-166966600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr6:166957000-166962400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:166957000-166967200	Weak transcription	HUVEC	blood vessel
27	chr6:166957000-166967400	Weak transcription	Right Atrium	heart
28	chr6:166957200-166968000	Weak transcription	Spleen	Spleen
29	chr6:166957400-166965000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:166957400-166965200	Weak transcription	Right Ventricle	heart
31	chr6:166957600-166965200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr6:166957600-166965600	Weak transcription	Left Ventricle	heart
33	chr6:166957600-166966000	Weak transcription	Fetal Stomach	stomach
34	chr6:166957800-166968800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr6:166958200-166965200	Weak transcription	Fetal Muscle Trunk	muscle
36	chr6:166959000-166965200	Weak transcription	Fetal Muscle Leg	muscle
37	chr6:166959200-166964800	Weak transcription	Fetal Brain Female	brain
38	chr6:166959600-166965800	Weak transcription	NHDF-Ad	bronchial
39	chr6:166959800-166962400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr6:166959800-166964000	Weak transcription	Lung	lung
41	chr6:166959800-166964800	Weak transcription	Brain Germinal Matrix	brain
42	chr6:166959800-166965000	Weak transcription	Fetal Brain Male	brain
43	chr6:166960000-166963800	Weak transcription	Osteobl	bone
44	chr6:166960000-166972800	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr6:166960400-166963000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:166960400-166966400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:166961200-166962800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:166961200-166962800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr6:166961200-166963200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr6:166961200-166966400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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