Variant report

Variant	rs7690186
Chromosome Location	chr4:144361752-144361753
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs28924082	1.00[ASN][1000 genomes]
rs28987969	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60327697	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7680485	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7695623	1.00[ASN][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	esv2757960	chr4:144348293-145131592	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	esv2759288	chr4:144348293-145131592	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1019980	chr4:144350575-144399936	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144318200-144362400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:144327800-144388200	Weak transcription	HepG2	liver
3	chr4:144333000-144364600	Weak transcription	NHEK	skin
4	chr4:144333400-144362400	Weak transcription	NH-A	brain
5	chr4:144336400-144392200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:144339400-144394600	Weak transcription	Colonic Mucosa	Colon
7	chr4:144342000-144382000	Weak transcription	Fetal Kidney	kidney
8	chr4:144344000-144363000	Weak transcription	Spleen	Spleen
9	chr4:144347000-144382600	Weak transcription	Gastric	stomach
10	chr4:144351600-144365000	Weak transcription	NHLF	lung
11	chr4:144352400-144382200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:144353000-144365400	Weak transcription	Small Intestine	intestine
13	chr4:144353200-144398600	Weak transcription	Brain Germinal Matrix	brain
14	chr4:144353600-144363000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr4:144353600-144400000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:144354600-144364000	Strong transcription	Primary B cells from cord blood	blood
17	chr4:144355200-144382400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr4:144355600-144388200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr4:144355800-144362600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr4:144356000-144371600	Weak transcription	Fetal Intestine Small	intestine
21	chr4:144357400-144362200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:144357400-144363200	Strong transcription	Fetal Intestine Large	intestine
23	chr4:144357600-144362000	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr4:144357800-144365000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr4:144358000-144362600	Strong transcription	Placenta	Placenta
26	chr4:144358000-144366800	Weak transcription	Thymus	Thymus
27	chr4:144358200-144387000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr4:144358400-144362600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:144358400-144363400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:144358400-144384400	Weak transcription	HSMM	muscle
31	chr4:144358600-144362000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:144358600-144362600	Strong transcription	Fetal Lung	lung
33	chr4:144358800-144362200	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr4:144358800-144362400	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr4:144358800-144362600	Strong transcription	Liver	Liver
36	chr4:144359000-144362000	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr4:144359000-144362000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr4:144359000-144363600	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr4:144359000-144363800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr4:144359200-144361800	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr4:144359200-144361800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr4:144359200-144362000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:144359200-144362000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:144359200-144362000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:144359200-144362000	Strong transcription	Adipose Nuclei	Adipose
46	chr4:144359200-144362000	Strong transcription	Duodenum Mucosa	Duodenum
47	chr4:144359200-144362000	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr4:144359200-144362600	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr4:144359200-144363200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:144359200-144363200	Strong transcription	Duodenum Smooth Muscle	Duodenum

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