Variant report

Variant	rs11171848
Chromosome Location	chr12:56829395-56829396
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56827122..56829878-chr12:56841273..56843034,2	K562	blood:
2	chr12:56816366..56820011-chr12:56829116..56832122,4	K562	blood:
3	chr12:56816330..56820698-chr12:56827397..56831177,4	K562	blood:
4	chr12:56827605..56830208-chr12:56835234..56837438,3	K562	blood:
5	chr12:56827738..56829538-chr12:56829816..56833638,4	K562	blood:
6	chr12:56811830..56813954-chr12:56828376..56831267,3	K562	blood:

Variant related genes	Relation type
ENSG00000111602	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10876889	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10876890	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11171847	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11171849	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11171850	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11171852	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11171856	0.90[ASN][1000 genomes]
rs11610921	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11833581	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11833583	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12299614	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12313431	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12316810	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12815993	0.92[ASN][1000 genomes]
rs1976294	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2279665	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2291738	0.82[ASN][1000 genomes]
rs2291739	0.87[EUR][1000 genomes]
rs2371455	0.89[ASN][1000 genomes]
rs2638304	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2657883	0.84[ASN][1000 genomes]
rs2939303	0.84[ASN][1000 genomes]
rs34520497	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34644700	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35634983	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3782237	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3809125	0.88[ASN][1000 genomes]
rs6581094	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6581095	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67027355	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs703829	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7302060	0.81[EUR][1000 genomes]
rs7305989	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7312888	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs774026	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs774027	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs774031	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs774032	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs774033	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs774034	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs774035	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs774036	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs774037	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs774039	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs774047	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7977477	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs812278	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs812279	0.87[EUR][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	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56799400-56831600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:56806000-56831200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:56810000-56829400	Weak transcription	Brain Substantia Nigra	brain
4	chr12:56810200-56829400	Weak transcription	HSMMtube	muscle
5	chr12:56811800-56830400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr12:56811800-56842400	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:56813000-56842600	Weak transcription	Fetal Heart	heart
8	chr12:56813200-56841200	Weak transcription	Fetal Kidney	kidney
9	chr12:56813800-56842400	Weak transcription	Right Atrium	heart
10	chr12:56816200-56842400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr12:56816600-56836400	Weak transcription	HMEC	breast
12	chr12:56817600-56829400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr12:56818600-56829600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr12:56818800-56833200	Weak transcription	Left Ventricle	heart
15	chr12:56819400-56829400	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr12:56820200-56829400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr12:56822600-56836000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:56822800-56836200	Weak transcription	Colonic Mucosa	Colon
19	chr12:56822800-56838000	Weak transcription	HUVEC	blood vessel
20	chr12:56824200-56830000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:56824400-56829800	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr12:56824800-56831400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr12:56825000-56833000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr12:56825400-56842000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:56825800-56836600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:56826200-56842400	Weak transcription	NH-A	brain
27	chr12:56826400-56841800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr12:56826400-56842200	Weak transcription	HSMM	muscle
29	chr12:56826400-56842400	Weak transcription	NHDF-Ad	bronchial
30	chr12:56827000-56829600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr12:56827200-56829800	Weak transcription	Esophagus	oesophagus
32	chr12:56827200-56831200	Weak transcription	Brain Anterior Caudate	brain
33	chr12:56827200-56842600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:56827400-56829400	Weak transcription	Right Ventricle	heart
35	chr12:56827400-56829600	Weak transcription	Brain Germinal Matrix	brain
36	chr12:56827400-56831000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr12:56827600-56829400	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr12:56827600-56829400	Weak transcription	Placenta	Placenta
39	chr12:56827600-56829600	Weak transcription	Fetal Brain Female	brain
40	chr12:56827600-56829800	Weak transcription	Primary hematopoietic stem cells	blood
41	chr12:56827600-56829800	Weak transcription	Duodenum Mucosa	Duodenum
42	chr12:56827600-56830600	Weak transcription	Fetal Intestine Large	intestine
43	chr12:56827600-56831000	Weak transcription	Pancreas	Pancrea
44	chr12:56827600-56831200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr12:56827600-56831400	Weak transcription	Fetal Lung	lung
46	chr12:56827600-56836000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:56827800-56829400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:56827800-56829600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr12:56827800-56829800	Weak transcription	Brain Angular Gyrus	brain
50	chr12:56827800-56830000	Weak transcription	Adipose Nuclei	Adipose

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