Variant report

Variant	rs10253233
Chromosome Location	chr7:129542761-129542762
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:129418574..129420391-chr7:129542627..129545526,2	K562	blood:
2	chr7:129536867..129540037-chr7:129542544..129546019,3	K562	blood:
3	chr7:129542390..129544026-chr7:129545338..129548140,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10215972	0.96[YRI][hapmap]
rs10216157	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10240142	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10242002	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10246707	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10249037	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10261367	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10273782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1046691	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10480805	1.00[JPT][hapmap]
rs10500121	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1486831	0.96[YRI][hapmap]
rs1526323	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17162050	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17162123	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17162136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17162295	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17639187	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2037720	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28604351	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58857902	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62489374	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62489375	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62491492	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62491503	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62491504	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62491537	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467267	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6962745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6979056	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73161641	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7789336	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7801603	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7803795	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9656386	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533849	chr7:129462947-129616625	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv831129	chr7:129525406-129702477	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129479400-129543600	Weak transcription	Thymus	Thymus
2	chr7:129505600-129545600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:129506000-129542800	Weak transcription	Small Intestine	intestine
4	chr7:129513200-129548600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:129516200-129542800	Weak transcription	HSMMtube	muscle
6	chr7:129516200-129584400	Weak transcription	Fetal Brain Male	brain
7	chr7:129517400-129543800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr7:129518000-129545200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:129518200-129557200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:129518200-129564600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr7:129519400-129546400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:129519600-129546400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:129520800-129545600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr7:129520800-129551200	Weak transcription	Placenta	Placenta
15	chr7:129522000-129548200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr7:129522600-129544600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr7:129522600-129547800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr7:129522600-129548400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr7:129522600-129548600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:129526000-129548200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:129529600-129542800	Weak transcription	K562	blood
22	chr7:129529800-129544400	Weak transcription	Right Atrium	heart
23	chr7:129529800-129545000	Weak transcription	Fetal Kidney	kidney
24	chr7:129529800-129545200	Weak transcription	Brain Anterior Caudate	brain
25	chr7:129529800-129546200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr7:129529800-129553400	Weak transcription	Brain Germinal Matrix	brain
27	chr7:129530000-129543600	Weak transcription	Aorta	Aorta
28	chr7:129530000-129587600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr7:129531600-129548400	Weak transcription	Fetal Brain Female	brain
30	chr7:129533600-129542800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr7:129535400-129546800	Weak transcription	Colonic Mucosa	Colon
32	chr7:129536000-129542800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr7:129536200-129548000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr7:129537000-129546600	Weak transcription	A549	lung
35	chr7:129537000-129554800	Weak transcription	NHDF-Ad	bronchial
36	chr7:129537200-129544200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr7:129537200-129552000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr7:129538600-129546200	Weak transcription	HUVEC	blood vessel
39	chr7:129538800-129542800	Weak transcription	Stomach Mucosa	stomach
40	chr7:129539000-129546600	Weak transcription	NH-A	brain
41	chr7:129539200-129542800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr7:129539200-129546200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr7:129539200-129546800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr7:129539400-129545000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:129539400-129545400	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr7:129539600-129542800	Weak transcription	Brain Angular Gyrus	brain
47	chr7:129539600-129542800	Weak transcription	Fetal Heart	heart
48	chr7:129539600-129543600	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr7:129539600-129545200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr7:129539600-129554800	Weak transcription	Dnd41	blood

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