Variant report

Variant	rs6752602
Chromosome Location	chr2:38924784-38924785
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:38920104..38923601-chr2:38924114..38926921,3	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10180775	0.86[AFR][1000 genomes]
rs10194503	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10197738	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13382974	0.91[AFR][1000 genomes]
rs13396461	0.84[AFR][1000 genomes]
rs13399254	0.91[AFR][1000 genomes]
rs13420732	0.91[AFR][1000 genomes]
rs17023045	0.88[AFR][1000 genomes]
rs28499207	0.91[AFR][1000 genomes]
rs7590813	0.88[AMR][1000 genomes];0.89[EUR][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	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	nsv873883	chr2:38881106-38932777	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv961401	chr2:38924660-38941942	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38894400-38960600	Weak transcription	Brain Substantia Nigra	brain
2	chr2:38894800-38949400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:38904800-38936000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:38905000-38935800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr2:38905000-38947600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:38905200-38925400	Weak transcription	Small Intestine	intestine
7	chr2:38909200-38947800	Weak transcription	Right Ventricle	heart
8	chr2:38909400-38960600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:38909600-38947800	Weak transcription	Brain Anterior Caudate	brain
10	chr2:38909800-38938600	Weak transcription	Fetal Kidney	kidney
11	chr2:38910000-38948000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:38912600-38932000	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:38913800-38938800	Weak transcription	Fetal Brain Male	brain
14	chr2:38914400-38930000	Weak transcription	Left Ventricle	heart
15	chr2:38914600-38935600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr2:38914600-38938600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr2:38914600-38948000	Weak transcription	Spleen	Spleen
18	chr2:38915800-38947200	Weak transcription	Ovary	ovary
19	chr2:38916600-38932600	Weak transcription	Lung	lung
20	chr2:38916800-38938800	Weak transcription	Fetal Lung	lung
21	chr2:38917000-38927800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:38917200-38936400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr2:38918000-38949400	Weak transcription	Primary B cells from cord blood	blood
24	chr2:38918600-38927400	Strong transcription	Fetal Intestine Small	intestine
25	chr2:38918600-38929600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:38918600-38947600	Weak transcription	Hela-S3	cervix
27	chr2:38918600-38956800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:38918800-38929600	Weak transcription	HSMM	muscle
29	chr2:38918800-38937200	Weak transcription	Fetal Muscle Leg	muscle
30	chr2:38919800-38927200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr2:38920200-38928400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:38920200-38929000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:38920200-38942600	Weak transcription	Aorta	Aorta
34	chr2:38920400-38926800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:38920400-38928800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr2:38920400-38947800	Weak transcription	Esophagus	oesophagus
37	chr2:38920600-38934000	Weak transcription	Thymus	Thymus
38	chr2:38921000-38931800	Weak transcription	A549	lung
39	chr2:38921200-38924800	Weak transcription	Placenta	Placenta
40	chr2:38921200-38927200	Strong transcription	HepG2	liver
41	chr2:38921400-38928000	Weak transcription	Stomach Mucosa	stomach
42	chr2:38921400-38931400	Weak transcription	Pancreas	Pancrea
43	chr2:38921400-38947400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr2:38921600-38929000	Weak transcription	Primary T cells from cord blood	blood
45	chr2:38921600-38935800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:38921600-38938800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr2:38921600-38942800	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr2:38921800-38924800	Weak transcription	Liver	Liver
49	chr2:38922400-38928000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:38922600-38928600	Enhancers	Primary T cells fromperipheralblood	blood

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