Variant report

Variant	rs11207322
Chromosome Location	chr1:59352323-59352324
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:59307801..59310593-chr1:59351132..59353384,2	K562	blood:
2	chr1:59244354..59252225-chr1:59338738..59357283,49	K562	blood:
3	chr1:59242511..59252251-chr1:59329388..59355607,72	K562	blood:
4	chr1:59280122..59283663-chr1:59349956..59353437,4	K562	blood:
5	chr1:59348233..59353011-chr1:59368695..59371190,6	K562	blood:
6	chr1:59248359..59251694-chr1:59350027..59354536,5	MCF-7	breast:
7	chr1:59347205..59349550-chr1:59349872..59353035,4	K562	blood:

Variant related genes	Relation type
ENSG00000177606	Chromatin interaction
ENSG00000234807	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10493253	0.81[JPT][hapmap]
rs10789072	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11207319	0.82[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs11207321	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11207323	0.89[CHD][hapmap];0.86[JPT][hapmap]
rs11207325	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11207326	0.86[JPT][hapmap]
rs12117564	0.89[CHD][hapmap];0.86[JPT][hapmap]
rs12122077	0.86[JPT][hapmap]
rs12142126	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1536159	0.86[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2057596	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2716105	0.83[JPT][hapmap]
rs6658104	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6661505	1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.98[MKK][hapmap];0.96[YRI][hapmap];0.96[ASN][1000 genomes]
rs6697107	0.86[JPT][hapmap]

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	nsv1005354	chr1:59283572-59535812	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv829959	chr1:59340330-59503085	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11207322	OMA1	cis	parietal	SCAN

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59319800-59361400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:59344800-59356000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:59346200-59353600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:59346200-59353800	Enhancers	Psoas Muscle	Psoas
5	chr1:59346400-59353400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:59346400-59354000	Enhancers	Fetal Intestine Small	intestine
7	chr1:59346600-59354000	Enhancers	Fetal Intestine Large	intestine
8	chr1:59346800-59353400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr1:59347000-59352600	Enhancers	NH-A	brain
10	chr1:59347000-59352800	Enhancers	Left Ventricle	heart
11	chr1:59347000-59353200	Enhancers	Stomach Mucosa	stomach
12	chr1:59347000-59353400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:59347000-59353800	Enhancers	Lung	lung
14	chr1:59347000-59353800	Enhancers	Right Atrium	heart
15	chr1:59347000-59354800	Enhancers	NHDF-Ad	bronchial
16	chr1:59347200-59353800	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr1:59347200-59354000	Enhancers	Pancreas	Pancrea
18	chr1:59347600-59352600	Enhancers	Brain Anterior Caudate	brain
19	chr1:59347800-59352800	Enhancers	A549	lung
20	chr1:59348000-59353000	Enhancers	Fetal Muscle Leg	muscle
21	chr1:59348000-59360800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr1:59348200-59353600	Enhancers	Fetal Thymus	thymus
23	chr1:59348600-59352800	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr1:59348600-59353600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:59349000-59354400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:59349400-59352400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:59349600-59352600	Enhancers	Duodenum Mucosa	Duodenum
28	chr1:59349600-59353000	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr1:59349600-59353800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr1:59349800-59353800	Enhancers	Adipose Nuclei	Adipose
31	chr1:59350000-59353200	Enhancers	Thymus	Thymus
32	chr1:59350000-59353400	Weak transcription	NHEK	skin
33	chr1:59350200-59352400	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr1:59350200-59352800	Enhancers	Brain Hippocampus Middle	brain
35	chr1:59350200-59353200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:59350200-59353200	Enhancers	Osteobl	bone
37	chr1:59350200-59353400	Enhancers	Colon Smooth Muscle	Colon
38	chr1:59350200-59353800	Enhancers	Primary T cells fromperipheralblood	blood
39	chr1:59350400-59352600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr1:59350400-59352600	Enhancers	Aorta	Aorta
41	chr1:59350400-59352600	Enhancers	Small Intestine	intestine
42	chr1:59350400-59353000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr1:59350400-59353400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:59350600-59352800	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr1:59350600-59352800	Enhancers	Stomach Smooth Muscle	stomach
46	chr1:59350600-59353400	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr1:59350600-59354600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:59351000-59352600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr1:59351000-59360800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr1:59351200-59352400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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