Variant report

Variant	rs17162295
Chromosome Location	chr7:129516157-129516158
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:129505309..129508372-chr7:129515702..129517352,3	K562	blood:
2	chr7:129497829..129499402-chr7:129513629..129516363,2	K562	blood:
3	chr7:129515155..129517525-chr7:129596999..129598887,2	K562	blood:
4	chr7:129505309..129508372-chr7:129515622..129517311,3	K562	blood:
5	chr7:129515772..129517800-chr7:129533682..129535309,2	K562	blood:
6	chr7:129509206..129511650-chr7:129515588..129517952,2	K562	blood:

Variant related genes	Relation type
ENSG00000186591	Chromatin interaction

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

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

rs_ID	r²[population]
rs10215972	0.95[YRI][hapmap]
rs10216153	0.92[AFR][1000 genomes]
rs10216157	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10240142	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10242002	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10246707	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[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];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10253233	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]
rs10261367	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10273782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1046691	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[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];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1486831	0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs1526323	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17162050	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17162123	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17162136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17639187	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2037720	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28604351	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55682483	0.93[AFR][1000 genomes]
rs57314877	0.80[AFR][1000 genomes]
rs58857902	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62489374	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62489375	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62491492	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62491503	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62491504	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62491518	0.85[AFR][1000 genomes]
rs62491537	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467267	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6962745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6979056	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73161641	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7783328	0.81[AFR][1000 genomes]
rs7789191	0.80[AFR][1000 genomes]
rs7789336	0.85[AMR][1000 genomes];0.86[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];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7803795	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9656386	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129475000-129534800	Weak transcription	Colonic Mucosa	Colon
2	chr7:129479400-129543600	Weak transcription	Thymus	Thymus
3	chr7:129494400-129518800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr7:129495600-129517000	Weak transcription	Fetal Lung	lung
5	chr7:129496400-129520400	Weak transcription	Fetal Brain Female	brain
6	chr7:129497000-129536800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:129499200-129517200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr7:129503000-129517200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr7:129503200-129517000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:129503200-129517200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:129503200-129519800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr7:129503200-129529000	Weak transcription	Gastric	stomach
13	chr7:129503400-129517200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:129503400-129538400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:129504000-129517800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr7:129504000-129518800	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr7:129504200-129517200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:129504200-129519200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr7:129504600-129518000	Weak transcription	Lung	lung
20	chr7:129505600-129529600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:129505600-129545600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr7:129506000-129518000	Weak transcription	Pancreas	Pancrea
23	chr7:129506000-129518000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr7:129506000-129542800	Weak transcription	Small Intestine	intestine
25	chr7:129506400-129516600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr7:129506400-129517000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr7:129506600-129517400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr7:129506800-129516400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr7:129506800-129517000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr7:129506800-129517200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr7:129506800-129519600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr7:129506800-129520600	Weak transcription	Fetal Kidney	kidney
33	chr7:129509600-129541000	Weak transcription	Spleen	Spleen
34	chr7:129510200-129524600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr7:129510400-129518000	Weak transcription	Fetal Intestine Large	intestine
36	chr7:129510400-129518000	Weak transcription	Right Atrium	heart
37	chr7:129510600-129541000	Weak transcription	Esophagus	oesophagus
38	chr7:129511200-129516400	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr7:129511200-129529000	Weak transcription	Brain Germinal Matrix	brain
40	chr7:129511200-129529600	Weak transcription	Brain Substantia Nigra	brain
41	chr7:129512000-129520000	Weak transcription	Dnd41	blood
42	chr7:129512000-129524400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:129512000-129529600	Weak transcription	Fetal Stomach	stomach
44	chr7:129513200-129548600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr7:129513400-129519200	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr7:129513800-129516200	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr7:129513800-129517000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:129513800-129517000	Weak transcription	Fetal Muscle Leg	muscle
49	chr7:129513800-129517200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr7:129513800-129517200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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