Variant report

Variant	rs1798805
Chromosome Location	chr7:22352708-22352709
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10950897	0.85[JPT][hapmap]
rs1636898	0.82[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830923	chr7:22316841-22494973	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1798805	SP8	cis	cerebellum	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:22282200-22364400	Weak transcription	Esophagus	oesophagus
2	chr7:22326800-22357000	Strong transcription	HepG2	liver
3	chr7:22327600-22359600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:22331400-22359600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr7:22333400-22361800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:22337000-22357800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr7:22337000-22362600	Weak transcription	Brain Anterior Caudate	brain
8	chr7:22340600-22369800	Weak transcription	Gastric	stomach
9	chr7:22340800-22365000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:22342200-22359600	Weak transcription	Pancreas	Pancrea
11	chr7:22342200-22373200	Weak transcription	Lung	lung
12	chr7:22342800-22359800	Weak transcription	Fetal Intestine Small	intestine
13	chr7:22344200-22357600	Strong transcription	Fetal Thymus	thymus
14	chr7:22344600-22358000	Strong transcription	Dnd41	blood
15	chr7:22346600-22359000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:22346600-22359600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr7:22346600-22359800	Weak transcription	Brain Angular Gyrus	brain
18	chr7:22346800-22355400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr7:22347200-22356200	Weak transcription	Left Ventricle	heart
20	chr7:22347200-22359600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:22347400-22354400	Weak transcription	Thymus	Thymus
22	chr7:22347400-22356400	Weak transcription	Colonic Mucosa	Colon
23	chr7:22348000-22353200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:22348000-22359400	Weak transcription	NHEK	skin
25	chr7:22348000-22359600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:22348000-22363800	Weak transcription	GM12878-XiMat	blood
27	chr7:22348200-22354200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:22348200-22358000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:22348200-22359400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr7:22348200-22359600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr7:22348400-22353800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr7:22349200-22353400	Weak transcription	Fetal Intestine Large	intestine
33	chr7:22349200-22354200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:22349800-22353000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr7:22350600-22353400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr7:22352400-22352800	Enhancers	Stomach Mucosa	stomach
37	chr7:22352400-22355000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr7:22352400-22355000	Strong transcription	Duodenum Mucosa	Duodenum
39	chr7:22352600-22354000	Strong transcription	Primary B cells from cord blood	blood
40	chr7:22352600-22354600	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr7:22352600-22354800	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr7:22352600-22355000	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr7:22352600-22355000	Strong transcription	Liver	Liver

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