Variant report

Variant	rs10227259
Chromosome Location	chr7:22343625-22343626
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:22341235..22343696-chr7:22476417..22478387,2	K562	blood:
2	chr7:22341670..22344140-chr7:22346502..22348156,2	K562	blood:
3	chr7:22342044..22344358-chr7:22354463..22356807,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10233668	0.88[EUR][1000 genomes]
rs10238401	0.82[EUR][1000 genomes]
rs10242605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10242851	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10264609	0.86[EUR][1000 genomes]
rs10268485	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10276593	0.95[CEU][hapmap];0.85[JPT][hapmap];0.84[EUR][1000 genomes]
rs12333620	0.95[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs1419767	0.81[CEU][hapmap]
rs1568571	0.95[CEU][hapmap];0.85[JPT][hapmap];0.84[EUR][1000 genomes]
rs1568572	0.94[CEU][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes]
rs1636895	0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs17146676	0.87[EUR][1000 genomes]
rs17146709	0.81[CEU][hapmap]
rs1798803	0.80[ASN][1000 genomes]
rs2158877	0.85[JPT][hapmap]
rs2256891	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs2528913	0.85[JPT][hapmap]
rs2528916	0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs2528917	0.85[JPT][hapmap]
rs2528918	0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs2686499	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs2686528	1.00[CEU][hapmap];0.83[CHB][hapmap];0.92[JPT][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28656461	0.87[EUR][1000 genomes]
rs4602791	0.81[CEU][hapmap]
rs62447068	0.80[ASN][1000 genomes]
rs62447069	0.88[EUR][1000 genomes]
rs62447095	0.88[EUR][1000 genomes]
rs62447097	0.87[EUR][1000 genomes]
rs62447098	0.87[EUR][1000 genomes]
rs62447101	0.85[EUR][1000 genomes]
rs6461643	0.86[EUR][1000 genomes]
rs6968552	0.84[EUR][1000 genomes]
rs7779510	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7796489	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7798671	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7799625	0.95[CEU][hapmap];0.85[JPT][hapmap];0.83[EUR][1000 genomes]
rs7805084	0.85[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:44 , 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	chr7:22334800-22344200	Weak transcription	Liver	Liver
21	chr7:22336200-22346000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr7:22336600-22347600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr7:22337000-22357800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr7:22337000-22362600	Weak transcription	Brain Anterior Caudate	brain
25	chr7:22340600-22369800	Weak transcription	Gastric	stomach
26	chr7:22340800-22345000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr7:22340800-22352400	Weak transcription	Stomach Mucosa	stomach
28	chr7:22340800-22365000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr7:22341800-22344600	Genic enhancers	Dnd41	blood
30	chr7:22342000-22344400	Enhancers	K562	blood
31	chr7:22342000-22346200	Weak transcription	Fetal Intestine Large	intestine
32	chr7:22342200-22344200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr7:22342200-22344200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr7:22342200-22345400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:22342200-22345400	Weak transcription	Thymus	Thymus
36	chr7:22342200-22346400	Weak transcription	Brain Angular Gyrus	brain
37	chr7:22342200-22359600	Weak transcription	Pancreas	Pancrea
38	chr7:22342200-22373200	Weak transcription	Lung	lung
39	chr7:22342400-22344200	Weak transcription	Fetal Thymus	thymus
40	chr7:22342800-22346400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr7:22342800-22359800	Weak transcription	Fetal Intestine Small	intestine
42	chr7:22343200-22348200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr7:22343200-22349800	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr7:22343400-22345600	Weak transcription	Primary hematopoietic stem cells	blood

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