Variant report

Variant	rs17268129
Chromosome Location	chr13:95844857-95844858
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:95838565..95840838-chr13:95843136..95844913,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12584917	0.86[JPT][hapmap]
rs1564351	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17189390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17189540	0.82[TSI][hapmap]
rs17268170	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1751026	0.97[EUR][1000 genomes]
rs1751027	0.92[CEU][hapmap];0.88[JPT][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs1751028	0.92[EUR][1000 genomes]
rs2009772	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs4148456	0.88[JPT][hapmap];0.91[TSI][hapmap]
rs4148466	0.81[ASN][1000 genomes]
rs4148473	0.81[ASN][1000 genomes]
rs4148487	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56137953	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61965912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61965929	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61965939	0.81[ASN][1000 genomes]
rs74105455	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74105457	0.94[ASN][1000 genomes]
rs873705	0.81[ASN][1000 genomes]
rs9302048	0.81[ASN][1000 genomes]
rs9302049	1.00[JPT][hapmap];0.91[TSI][hapmap]
rs9516540	0.81[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	nsv533659	chr13:95757713-96042149	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv832689	chr13:95759073-95921308	Genic enhancers ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS 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:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95807000-95846000	Weak transcription	Brain Substantia Nigra	brain
2	chr13:95807000-95857800	Weak transcription	Esophagus	oesophagus
3	chr13:95807200-95865600	Weak transcription	Colonic Mucosa	Colon
4	chr13:95808400-95854600	Weak transcription	NHEK	skin
5	chr13:95813200-95858000	Weak transcription	Aorta	Aorta
6	chr13:95815200-95847800	Weak transcription	Hela-S3	cervix
7	chr13:95827400-95872400	Weak transcription	NH-A	brain
8	chr13:95829400-95856000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr13:95830400-95845400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr13:95830400-95845600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr13:95830400-95857800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr13:95830400-95857800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr13:95831600-95845200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr13:95831600-95845600	Weak transcription	Fetal Intestine Large	intestine
15	chr13:95833000-95845600	Weak transcription	Brain Hippocampus Middle	brain
16	chr13:95833600-95856800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr13:95833800-95846000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr13:95833800-95855400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr13:95833800-95856600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr13:95833800-95859800	Weak transcription	Colon Smooth Muscle	Colon
21	chr13:95834000-95846000	Weak transcription	Gastric	stomach
22	chr13:95834000-95865400	Weak transcription	Psoas Muscle	Psoas
23	chr13:95834200-95845400	Weak transcription	HepG2	liver
24	chr13:95834400-95845800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr13:95834400-95849200	Weak transcription	K562	blood
26	chr13:95838200-95867400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr13:95839200-95857000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr13:95839400-95845400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr13:95839400-95845400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr13:95839400-95857200	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr13:95839400-95857800	Weak transcription	Primary T cells from cord blood	blood
32	chr13:95839400-95863800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr13:95839600-95847000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr13:95839600-95856800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr13:95839600-95857800	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr13:95840400-95874400	Weak transcription	Pancreas	Pancrea
37	chr13:95840800-95845000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr13:95840800-95845400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr13:95840800-95845400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr13:95840800-95845400	Weak transcription	Adipose Nuclei	Adipose
41	chr13:95841800-95845200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr13:95841800-95845400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr13:95841800-95845400	Weak transcription	Fetal Intestine Small	intestine
44	chr13:95841800-95845600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr13:95841800-95846200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr13:95841800-95854200	Weak transcription	HUVEC	blood vessel
47	chr13:95842000-95845800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr13:95842000-95846200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr13:95842000-95855600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr13:95842000-95856000	Weak transcription	Primary T helper cells fromperipheralblood	blood

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