Variant report

Variant	rs6743790
Chromosome Location	chr2:38929437-38929438
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:38822893..38825624-chr2:38929270..38931305,2	K562	blood:
2	chr2:38926804..38930306-chr2:38930620..38933051,3	K562	blood:
3	chr2:38918111..38919788-chr2:38928353..38930489,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11687518	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17422091	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2043188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4359633	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55893071	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55965598	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62142655	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62142659	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62144780	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	esv3431362	chr2:38929298-38931196	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 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	chr2:38909200-38947800	Weak transcription	Right Ventricle	heart
7	chr2:38909400-38960600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:38909600-38947800	Weak transcription	Brain Anterior Caudate	brain
9	chr2:38909800-38938600	Weak transcription	Fetal Kidney	kidney
10	chr2:38910000-38948000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:38912600-38932000	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:38913800-38938800	Weak transcription	Fetal Brain Male	brain
13	chr2:38914400-38930000	Weak transcription	Left Ventricle	heart
14	chr2:38914600-38935600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr2:38914600-38938600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:38914600-38948000	Weak transcription	Spleen	Spleen
17	chr2:38915800-38947200	Weak transcription	Ovary	ovary
18	chr2:38916600-38932600	Weak transcription	Lung	lung
19	chr2:38916800-38938800	Weak transcription	Fetal Lung	lung
20	chr2:38917200-38936400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr2:38918000-38949400	Weak transcription	Primary B cells from cord blood	blood
22	chr2:38918600-38929600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:38918600-38947600	Weak transcription	Hela-S3	cervix
24	chr2:38918600-38956800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr2:38918800-38929600	Weak transcription	HSMM	muscle
26	chr2:38918800-38937200	Weak transcription	Fetal Muscle Leg	muscle
27	chr2:38920200-38942600	Weak transcription	Aorta	Aorta
28	chr2:38920400-38947800	Weak transcription	Esophagus	oesophagus
29	chr2:38920600-38934000	Weak transcription	Thymus	Thymus
30	chr2:38921000-38931800	Weak transcription	A549	lung
31	chr2:38921400-38931400	Weak transcription	Pancreas	Pancrea
32	chr2:38921400-38947400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr2:38921600-38935800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:38921600-38938800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr2:38921600-38942800	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr2:38924400-38936800	Weak transcription	Fetal Stomach	stomach
37	chr2:38924800-38936400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr2:38925000-38932400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr2:38925000-38932800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr2:38925800-38931200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr2:38926000-38931400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr2:38927400-38947600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr2:38927600-38929600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:38927600-38930800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr2:38927600-38932000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr2:38927600-38957000	Weak transcription	Brain Hippocampus Middle	brain
47	chr2:38927800-38930000	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr2:38928000-38930000	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr2:38928000-38931000	Enhancers	NHDF-Ad	bronchial
50	chr2:38928000-38932600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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