Variant report

Variant	rs13240038
Chromosome Location	chr7:107592387-107592388
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:107591065..107592755-chr7:107592896..107594403,2	K562	blood:

Variant related genes	Relation type
ENSG00000091136	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11487092	1.00[CEU][hapmap]

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	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv949344	chr7:107396502-107987085	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv831088	chr7:107497100-107693680	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107578000-107594800	Genic enhancers	HUVEC	blood vessel
2	chr7:107579400-107636200	Weak transcription	Fetal Brain Male	brain
3	chr7:107582000-107599000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:107582800-107605800	Strong transcription	Rectal Mucosa Donor 31	rectum
5	chr7:107584400-107594800	Genic enhancers	NHLF	lung
6	chr7:107585000-107611800	Weak transcription	K562	blood
7	chr7:107585800-107595000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:107586200-107592400	Weak transcription	Psoas Muscle	Psoas
9	chr7:107586200-107592400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr7:107586400-107597400	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr7:107587600-107595000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:107588200-107592400	Strong transcription	Fetal Muscle Leg	muscle
13	chr7:107588200-107594800	Strong transcription	Left Ventricle	heart
14	chr7:107588400-107593800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr7:107588400-107594400	Genic enhancers	HMEC	breast
16	chr7:107588400-107600200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr7:107588400-107607000	Weak transcription	Brain Angular Gyrus	brain
18	chr7:107588800-107594800	Strong transcription	Fetal Kidney	kidney
19	chr7:107589000-107592400	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr7:107589000-107592400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr7:107589200-107594800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:107589400-107594400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:107589600-107592400	Weak transcription	Brain Anterior Caudate	brain
24	chr7:107590000-107594800	Enhancers	Fetal Heart	heart
25	chr7:107590000-107599800	Weak transcription	Ovary	ovary
26	chr7:107590200-107592600	Strong transcription	Fetal Stomach	stomach
27	chr7:107590200-107607200	Weak transcription	Stomach Mucosa	stomach
28	chr7:107590200-107612400	Strong transcription	Fetal Intestine Small	intestine
29	chr7:107590400-107592400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:107590400-107592800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:107590400-107593000	Genic enhancers	A549	lung
32	chr7:107590400-107594400	Genic enhancers	Osteobl	bone
33	chr7:107590600-107592400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:107590600-107593800	Genic enhancers	Muscle Satellite Cultured Cells	--
35	chr7:107590600-107594600	Genic enhancers	NH-A	brain
36	chr7:107590800-107593800	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr7:107590800-107594800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr7:107591000-107594000	Strong transcription	Adipose Nuclei	Adipose
39	chr7:107591000-107594800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:107591000-107594800	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr7:107591000-107597400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:107591000-107605600	Strong transcription	Duodenum Mucosa	Duodenum
43	chr7:107591000-107607600	Strong transcription	Fetal Intestine Large	intestine
44	chr7:107591200-107592400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:107591200-107592400	Genic enhancers	Hela-S3	cervix
46	chr7:107591200-107592400	Strong transcription	HSMM	muscle
47	chr7:107591200-107592600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
48	chr7:107591200-107593200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:107591200-107593200	Strong transcription	Fetal Brain Female	brain
50	chr7:107591200-107593400	Genic enhancers	Fetal Lung	lung

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