Variant report

Variant	rs10268485
Chromosome Location	chr7:22345040-22345041
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10227259	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10233668	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10238401	0.81[EUR][1000 genomes]
rs10242605	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10242851	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10264609	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10276593	0.95[CEU][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs11975330	0.82[JPT][hapmap]
rs11980801	0.81[JPT][hapmap]
rs12333620	0.95[CEU][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12534599	0.81[JPT][hapmap]
rs13239365	0.81[JPT][hapmap]
rs1345252	0.81[JPT][hapmap]
rs1419767	0.82[CEU][hapmap]
rs1543886	0.81[JPT][hapmap]
rs1568571	0.95[CEU][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs1568572	0.95[CEU][hapmap];0.83[JPT][hapmap];0.83[EUR][1000 genomes]
rs1636895	0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs17146447	0.81[JPT][hapmap]
rs17146676	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2158877	0.88[JPT][hapmap]
rs2256891	0.88[JPT][hapmap]
rs2528913	0.88[JPT][hapmap]
rs2528916	0.88[JPT][hapmap]
rs2528917	0.88[JPT][hapmap]
rs2528918	0.88[JPT][hapmap]
rs2686499	0.87[JPT][hapmap]
rs2686528	0.95[CEU][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28656461	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62447069	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62447095	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62447097	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62447098	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62447101	0.84[EUR][1000 genomes]
rs6461643	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6968552	0.83[EUR][1000 genomes]
rs7779510	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7796489	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7798671	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7799625	0.90[CEU][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs7805084	0.88[JPT][hapmap]

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

No data

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	chr7:22320800-22345400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:22321000-22346800	Weak transcription	NHEK	skin
4	chr7:22326800-22357000	Strong transcription	HepG2	liver
5	chr7:22327400-22345400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr7:22327600-22359600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:22327800-22350400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:22329600-22347000	Weak transcription	Colonic Mucosa	Colon
9	chr7:22329800-22345400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:22329800-22346200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:22330000-22345200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr7:22330000-22345200	Weak transcription	Primary B cells from cord blood	blood
13	chr7:22330000-22347000	Weak transcription	GM12878-XiMat	blood
14	chr7:22330800-22345400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:22331400-22359600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr7:22332600-22345200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr7:22333000-22345200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:22333400-22349600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:22333400-22361800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr7:22336200-22346000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr7:22336600-22347600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:22337000-22357800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr7:22337000-22362600	Weak transcription	Brain Anterior Caudate	brain
24	chr7:22340600-22369800	Weak transcription	Gastric	stomach
25	chr7:22340800-22352400	Weak transcription	Stomach Mucosa	stomach
26	chr7:22340800-22365000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:22342000-22346200	Weak transcription	Fetal Intestine Large	intestine
28	chr7:22342200-22345400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:22342200-22345400	Weak transcription	Thymus	Thymus
30	chr7:22342200-22346400	Weak transcription	Brain Angular Gyrus	brain
31	chr7:22342200-22359600	Weak transcription	Pancreas	Pancrea
32	chr7:22342200-22373200	Weak transcription	Lung	lung
33	chr7:22342800-22346400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr7:22342800-22359800	Weak transcription	Fetal Intestine Small	intestine
35	chr7:22343200-22348200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:22343200-22349800	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr7:22343400-22345600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr7:22344200-22348600	Strong transcription	Liver	Liver
39	chr7:22344200-22348800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr7:22344200-22357600	Strong transcription	Fetal Thymus	thymus
41	chr7:22344400-22349600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:22344600-22358000	Strong transcription	Dnd41	blood
43	chr7:22345000-22348000	Strong transcription	Rectal Mucosa Donor 29	rectum

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