Variant report

Variant	rs6742094
Chromosome Location	chr2:208864655-208864656
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:208864606..208866514-chr2:208869636..208871841,2	K562	blood:

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

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

rs_ID	r²[population]
rs10179682	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs13421092	0.92[AFR][1000 genomes]
rs13422757	1.00[YRI][hapmap];0.93[AFR][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	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv875743	chr2:208688648-208940023	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208834800-208865000	Weak transcription	HSMMtube	muscle
2	chr2:208836000-208878400	Weak transcription	Fetal Kidney	kidney
3	chr2:208841600-208864800	Weak transcription	HepG2	liver
4	chr2:208841600-208865200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr2:208841800-208864800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:208842200-208864800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr2:208842200-208864800	Weak transcription	Aorta	Aorta
8	chr2:208842200-208864800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:208842200-208864800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr2:208842200-208864800	Weak transcription	Right Ventricle	heart
11	chr2:208842200-208865000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:208842200-208866600	Weak transcription	Gastric	stomach
13	chr2:208842200-208867600	Weak transcription	Thymus	Thymus
14	chr2:208842200-208871200	Weak transcription	Esophagus	oesophagus
15	chr2:208842400-208864800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:208842400-208866000	Weak transcription	Brain Germinal Matrix	brain
17	chr2:208842400-208867200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr2:208842400-208868200	Weak transcription	Dnd41	blood
19	chr2:208843600-208871200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:208848800-208864800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr2:208852200-208864800	Weak transcription	Spleen	Spleen
22	chr2:208852400-208864800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr2:208852400-208867200	Weak transcription	Psoas Muscle	Psoas
24	chr2:208852400-208868000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:208853800-208868000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr2:208854200-208889400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:208856400-208864800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr2:208856600-208882000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr2:208857000-208877200	Weak transcription	Pancreas	Pancrea
30	chr2:208857200-208888000	Weak transcription	Fetal Brain Male	brain
31	chr2:208857400-208864800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:208858000-208864800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:208858400-208865000	Weak transcription	NH-A	brain
34	chr2:208858400-208871800	Weak transcription	HSMM	muscle
35	chr2:208858600-208870600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:208858600-208870600	Weak transcription	NHEK	skin
37	chr2:208858600-208871200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:208858800-208878600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr2:208859000-208865000	Weak transcription	NHDF-Ad	bronchial
40	chr2:208859400-208867200	Weak transcription	Colon Smooth Muscle	Colon
41	chr2:208860400-208864800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr2:208861000-208874800	Weak transcription	Small Intestine	intestine
43	chr2:208861200-208864800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:208861200-208864800	Weak transcription	Primary T cells from cord blood	blood
45	chr2:208861200-208865000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr2:208861400-208865200	Weak transcription	Osteobl	bone
47	chr2:208862000-208866600	Strong transcription	Fetal Muscle Leg	muscle
48	chr2:208862000-208866800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr2:208862000-208867400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr2:208862200-208864800	Weak transcription	Brain Angular Gyrus	brain

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