Variant report

Variant	rs17091037
Chromosome Location	chr12:42591795-42591796
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:42591218..42593294-chr12:42596615..42598964,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11832002	0.86[ASN][1000 genomes]
rs11837035	0.84[ASN][1000 genomes]
rs12308091	0.86[ASN][1000 genomes]
rs17091040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56687376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58990065	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61457506	0.87[AFR][1000 genomes]
rs824725	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv826351	chr12:42584218-42676281	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv437751	chr12:42586641-42599122	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42539800-42607800	Weak transcription	Pancreas	Pancrea
2	chr12:42547800-42610400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:42550600-42615800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:42552000-42604000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:42552200-42613000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr12:42552400-42620000	Weak transcription	Fetal Brain Female	brain
7	chr12:42554000-42607600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:42554600-42592200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr12:42555000-42628600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr12:42555400-42598000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr12:42556800-42613200	Weak transcription	HMEC	breast
12	chr12:42557000-42604000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:42557200-42606800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:42558000-42602400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:42563200-42608000	Weak transcription	Small Intestine	intestine
16	chr12:42568400-42623400	Weak transcription	K562	blood
17	chr12:42568600-42607800	Weak transcription	Right Ventricle	heart
18	chr12:42568800-42630600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:42569600-42630800	Weak transcription	Colonic Mucosa	Colon
20	chr12:42569800-42631000	Weak transcription	Gastric	stomach
21	chr12:42571400-42597600	Weak transcription	Esophagus	oesophagus
22	chr12:42571600-42602400	Weak transcription	HepG2	liver
23	chr12:42574800-42615600	Weak transcription	HUVEC	blood vessel
24	chr12:42575600-42607800	Weak transcription	Brain Angular Gyrus	brain
25	chr12:42575600-42628600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr12:42575800-42607800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr12:42575800-42607800	Weak transcription	Brain Substantia Nigra	brain
28	chr12:42576000-42591800	Weak transcription	Brain Hippocampus Middle	brain
29	chr12:42576200-42592400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:42576600-42607800	Weak transcription	Brain Anterior Caudate	brain
31	chr12:42578000-42606400	Weak transcription	Fetal Heart	heart
32	chr12:42578800-42603600	Weak transcription	Brain Germinal Matrix	brain
33	chr12:42579200-42606800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:42581800-42607800	Weak transcription	Ovary	ovary
35	chr12:42582000-42596000	Weak transcription	NHEK	skin
36	chr12:42582200-42602000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr12:42583800-42606800	Weak transcription	HSMM	muscle
38	chr12:42584400-42594600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr12:42585200-42593400	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr12:42585200-42596400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:42585200-42608000	Weak transcription	Colon Smooth Muscle	Colon
42	chr12:42585400-42595400	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr12:42585600-42604600	Weak transcription	Fetal Brain Male	brain
44	chr12:42586000-42593000	Strong transcription	Liver	Liver
45	chr12:42586000-42593400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr12:42586200-42593600	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr12:42586400-42603800	Weak transcription	NH-A	brain
48	chr12:42586800-42630000	Weak transcription	Fetal Kidney	kidney
49	chr12:42587200-42592000	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr12:42587200-42607800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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