Variant report

Variant	rs6753974
Chromosome Location	chr2:180047242-180047243
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12693176	0.97[AFR][1000 genomes]
rs12693178	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13022632	0.97[AFR][1000 genomes]
rs1446673	0.97[AFR][1000 genomes]
rs1490998	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4894081	0.97[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	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1004693	chr2:179933683-180265288	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv834471	chr2:179974303-180123027	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv1807721	chr2:180024167-180076733	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179975800-180047600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:179977400-180049000	Weak transcription	HSMMtube	muscle
3	chr2:179980000-180056800	Weak transcription	HSMM	muscle
4	chr2:179996200-180047600	Weak transcription	NH-A	brain
5	chr2:179998000-180060600	Weak transcription	Right Ventricle	heart
6	chr2:180005800-180053600	Weak transcription	Primary T cells from cord blood	blood
7	chr2:180006600-180051000	Weak transcription	HUVEC	blood vessel
8	chr2:180006800-180054600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:180008600-180048400	Weak transcription	Small Intestine	intestine
10	chr2:180015000-180054800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:180015000-180056000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:180015000-180060600	Weak transcription	Lung	lung
13	chr2:180015400-180049800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:180015400-180058000	Weak transcription	Fetal Stomach	stomach
15	chr2:180015400-180060600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:180016000-180049000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr2:180016000-180054200	Weak transcription	NHDF-Ad	bronchial
18	chr2:180016200-180054000	Weak transcription	Osteobl	bone
19	chr2:180023000-180052800	Weak transcription	Fetal Heart	heart
20	chr2:180024400-180048600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr2:180026400-180048800	Weak transcription	Fetal Intestine Small	intestine
22	chr2:180030400-180055400	Weak transcription	Thymus	Thymus
23	chr2:180030800-180050800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr2:180031200-180052000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr2:180031400-180050000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr2:180032200-180050800	Weak transcription	NHEK	skin
27	chr2:180032200-180067600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:180033000-180047800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:180033000-180049600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:180036200-180048000	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr2:180036600-180051800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:180036600-180053200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:180037600-180047800	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr2:180037600-180058800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:180039000-180048800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr2:180040800-180051000	Weak transcription	Fetal Intestine Large	intestine
37	chr2:180041000-180051000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:180041000-180054800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:180041000-180057000	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr2:180041200-180048400	Weak transcription	Fetal Muscle Leg	muscle
41	chr2:180041200-180051000	Weak transcription	HMEC	breast
42	chr2:180041200-180053200	Weak transcription	Brain Anterior Caudate	brain
43	chr2:180041200-180056000	Weak transcription	Fetal Thymus	thymus
44	chr2:180041200-180058800	Weak transcription	Left Ventricle	heart
45	chr2:180041200-180058800	Weak transcription	Ovary	ovary
46	chr2:180042800-180047400	Weak transcription	Brain Hippocampus Middle	brain
47	chr2:180043000-180053200	Weak transcription	Brain Substantia Nigra	brain
48	chr2:180043200-180055200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr2:180043400-180052600	Weak transcription	Brain Angular Gyrus	brain
50	chr2:180043600-180049200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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