Variant report

Variant	rs73978619
Chromosome Location	chr2:190271900-190271901
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	chr2:190271223..190274558-chr2:190305848..190310327,4	K562	blood:

Variant related genes	Relation type
ENSG00000115368	Chromatin interaction

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

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

rs_ID	r²[population]
rs56730520	1.00[AFR][1000 genomes]
rs60528634	1.00[AFR][1000 genomes]
rs73978611	1.00[AFR][1000 genomes]
rs73978627	1.00[AFR][1000 genomes]
rs73982010	1.00[AFR][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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875613	chr2:189999011-190324685	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv875615	chr2:190215527-190444392	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190258800-190272000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:190258800-190272600	Weak transcription	Aorta	Aorta
3	chr2:190268000-190272400	Weak transcription	NHEK	skin
4	chr2:190268200-190272400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:190268200-190276800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:190269200-190275000	Weak transcription	Fetal Intestine Small	intestine
7	chr2:190270400-190274400	Enhancers	Rectal Smooth Muscle	rectum
8	chr2:190271000-190272000	Enhancers	NHLF	lung
9	chr2:190271200-190272000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:190271200-190272000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:190271200-190272000	Enhancers	NHDF-Ad	bronchial
12	chr2:190271200-190272000	Enhancers	Osteobl	bone
13	chr2:190271200-190272200	Enhancers	Colon Smooth Muscle	Colon
14	chr2:190271200-190272600	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr2:190271200-190273200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:190271200-190273200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr2:190271400-190272000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:190271400-190272000	Enhancers	NH-A	brain
19	chr2:190271400-190272200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr2:190271400-190272200	Enhancers	HSMM	muscle
21	chr2:190271400-190272400	Enhancers	HUVEC	blood vessel
22	chr2:190271400-190273200	Enhancers	Fetal Lung	lung
23	chr2:190271400-190273200	Enhancers	HMEC	breast
24	chr2:190271400-190274200	Enhancers	Fetal Stomach	stomach
25	chr2:190271600-190272000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:190271600-190272000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:190271600-190272200	Enhancers	HSMMtube	muscle
28	chr2:190271600-190272400	Enhancers	Primary T cells from cord blood	blood
29	chr2:190271600-190272600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr2:190271600-190273000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr2:190271600-190273200	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr2:190271800-190272200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:190271800-190272600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr2:190271800-190272600	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr2:190271800-190273000	Flanking Active TSS	A549	lung

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