Variant report

Variant	rs2185983
Chromosome Location	chr1:62183230-62183231
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	chr1:62181809..62185712-chr1:62189525..62191366,3	K562	blood:
2	chr1:62172595..62175082-chr1:62181867..62184619,2	K562	blood:

Variant related genes	Relation type
ENSG00000162604	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1151769	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1151773	0.89[YRI][hapmap]
rs1286627	1.00[EUR][1000 genomes]
rs56108611	1.00[EUR][1000 genomes]
rs74076123	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv994970	chr1:61693951-62199657	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv3336014	chr1:62181364-62183262	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62138800-62189600	Weak transcription	Psoas Muscle	Psoas
2	chr1:62140000-62189000	Weak transcription	NHLF	lung
3	chr1:62142800-62188600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:62146200-62190200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:62158600-62189800	Weak transcription	Pancreas	Pancrea
6	chr1:62165000-62189800	Weak transcription	Aorta	Aorta
7	chr1:62165400-62189400	Weak transcription	Fetal Brain Male	brain
8	chr1:62165400-62189600	Weak transcription	Right Ventricle	heart
9	chr1:62165400-62189800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:62166400-62189400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr1:62166600-62187400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:62166600-62189400	Weak transcription	A549	lung
13	chr1:62166800-62189400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr1:62171600-62188400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:62172000-62189400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr1:62172000-62189800	Weak transcription	Gastric	stomach
17	chr1:62173000-62184000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr1:62173200-62189600	Weak transcription	Colonic Mucosa	Colon
19	chr1:62174000-62189600	Weak transcription	Brain Hippocampus Middle	brain
20	chr1:62174200-62189000	Weak transcription	Colon Smooth Muscle	Colon
21	chr1:62174400-62188800	Weak transcription	Brain Germinal Matrix	brain
22	chr1:62174400-62189800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:62174400-62189800	Weak transcription	Esophagus	oesophagus
24	chr1:62174600-62184800	Weak transcription	HUVEC	blood vessel
25	chr1:62174600-62189200	Weak transcription	HepG2	liver
26	chr1:62174600-62190200	Weak transcription	Small Intestine	intestine
27	chr1:62174800-62189200	Weak transcription	Fetal Brain Female	brain
28	chr1:62174800-62189400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr1:62174800-62189600	Weak transcription	Primary B cells from cord blood	blood
30	chr1:62174800-62189600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:62174800-62189600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr1:62174800-62189600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr1:62174800-62189600	Weak transcription	Left Ventricle	heart
34	chr1:62174800-62189600	Weak transcription	Osteobl	bone
35	chr1:62174800-62189800	Weak transcription	Lung	lung
36	chr1:62174800-62189800	Weak transcription	HSMMtube	muscle
37	chr1:62174800-62190000	Weak transcription	Ovary	ovary
38	chr1:62174800-62190400	Weak transcription	Spleen	Spleen
39	chr1:62175000-62183400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:62175000-62187600	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr1:62175000-62188400	Weak transcription	Brain Anterior Caudate	brain
42	chr1:62175000-62188800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr1:62175000-62189200	Weak transcription	Duodenum Mucosa	Duodenum
44	chr1:62175000-62189400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr1:62175000-62189400	Weak transcription	Fetal Kidney	kidney
46	chr1:62175000-62189600	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr1:62175000-62189800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:62175000-62189800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr1:62175200-62185400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:62175200-62186400	Weak transcription	Placenta	Placenta

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