Variant report

Variant	rs73627694
Chromosome Location	chr19:38696127-38696128
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:38692307..38694254-chr19:38695485..38698423,2	K562	blood:
2	chr19:38685030..38686981-chr19:38695429..38697900,3	K562	blood:
3	chr19:38688847..38690715-chr19:38692444..38696318,3	K562	blood:

Variant related genes	Relation type
ENSG00000268499	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10426091	1.00[EUR][1000 genomes]
rs2014952	1.00[EUR][1000 genomes]
rs60026344	1.00[EUR][1000 genomes]
rs73630135	1.00[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	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv833821	chr19:38629937-38756792	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv911657	chr19:38655449-38753786	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38653600-38696400	Weak transcription	Small Intestine	intestine
2	chr19:38657600-38696200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr19:38664600-38699800	Weak transcription	Brain Substantia Nigra	brain
4	chr19:38672600-38699800	Weak transcription	HUVEC	blood vessel
5	chr19:38674400-38696400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:38674600-38696800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr19:38674600-38698600	Strong transcription	Fetal Intestine Small	intestine
8	chr19:38674800-38696200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr19:38674800-38696800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr19:38674800-38697000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr19:38674800-38699000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr19:38674800-38699000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr19:38674800-38700400	Weak transcription	Fetal Kidney	kidney
14	chr19:38675400-38700200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr19:38675600-38696800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr19:38676000-38699800	Weak transcription	Right Atrium	heart
17	chr19:38676800-38698200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:38679400-38699400	Strong transcription	Duodenum Mucosa	Duodenum
19	chr19:38679600-38697800	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr19:38679800-38698400	Strong transcription	Fetal Intestine Large	intestine
21	chr19:38679800-38698600	Strong transcription	Primary B cells from peripheral blood	blood
22	chr19:38680000-38699400	Weak transcription	Dnd41	blood
23	chr19:38680600-38697800	Strong transcription	Fetal Stomach	stomach
24	chr19:38680600-38698000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr19:38680600-38698400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr19:38680600-38698600	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr19:38681000-38698200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr19:38681000-38698400	Strong transcription	Skeletal Muscle Male	skeletal muscle
29	chr19:38682200-38697800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr19:38682200-38698400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr19:38682400-38697800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr19:38682600-38697000	Strong transcription	Fetal Muscle Trunk	muscle
33	chr19:38682600-38697200	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr19:38682600-38698200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr19:38684800-38697200	Strong transcription	Fetal Muscle Leg	muscle
36	chr19:38685400-38700000	Weak transcription	HMEC	breast
37	chr19:38685400-38713800	Weak transcription	HepG2	liver
38	chr19:38686000-38697600	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr19:38686200-38698000	Weak transcription	Fetal Thymus	thymus
40	chr19:38687000-38699000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr19:38687800-38697600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr19:38687800-38699800	Weak transcription	HSMMtube	muscle
43	chr19:38688000-38698400	Strong transcription	Adipose Nuclei	Adipose
44	chr19:38688600-38699200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr19:38688800-38697800	Strong transcription	Liver	Liver
46	chr19:38689000-38696400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr19:38689000-38697800	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr19:38689800-38700200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr19:38689800-38701200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr19:38690200-38696400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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