Variant report

Variant	rs12112308
Chromosome Location	chr7:50603487-50603488
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:50601758..50604303-chr7:50604942..50607334,2	K562	blood:
2	chr7:50598241..50600922-chr7:50601073..50603965,2	K562	blood:
3	chr7:50601800..50604303-chr7:50605834..50607689,2	K562	blood:

Variant related genes	Relation type
ENSG00000226122	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10499693	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11575293	1.00[EUR][1000 genomes]
rs11575302	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575340	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575343	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575360	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575381	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575385	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11575407	1.00[EUR][1000 genomes]
rs11575447	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11575493	1.00[EUR][1000 genomes]
rs11575494	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11575501	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11575502	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11575503	1.00[EUR][1000 genomes]
rs11575504	1.00[EUR][1000 genomes]
rs11575505	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575507	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11575508	1.00[EUR][1000 genomes]
rs11575510	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11575511	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11575512	1.00[EUR][1000 genomes]
rs11575514	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11575518	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11575519	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11575522	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11575523	1.00[EUR][1000 genomes]
rs11575527	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11575537	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11575540	1.00[EUR][1000 genomes]
rs11575542	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11575543	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11575546	1.00[EUR][1000 genomes]
rs11575547	1.00[EUR][1000 genomes]
rs11575549	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11978797	0.92[EUR][1000 genomes]
rs11981575	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11982708	1.00[EUR][1000 genomes]
rs11982772	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11982776	0.92[EUR][1000 genomes]
rs11983581	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11983757	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12113897	0.84[EUR][1000 genomes]
rs2329370	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3173669	0.92[EUR][1000 genomes]
rs55869201	1.00[EUR][1000 genomes]
rs55992615	1.00[EUR][1000 genomes]
rs56030652	1.00[EUR][1000 genomes]
rs56951986	0.85[AMR][1000 genomes]
rs57167849	0.92[EUR][1000 genomes]
rs57835901	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57927451	0.85[AMR][1000 genomes]
rs59150746	1.00[EUR][1000 genomes]
rs59828622	0.92[EUR][1000 genomes]
rs6956737	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6975312	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6978556	0.92[EUR][1000 genomes]
rs73695512	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73695568	0.91[AFR][1000 genomes]
rs73695638	0.84[EUR][1000 genomes]
rs73695639	0.92[EUR][1000 genomes]
rs73695640	0.92[EUR][1000 genomes]
rs73695641	0.92[EUR][1000 genomes]
rs73695643	0.92[EUR][1000 genomes]
rs73695661	0.92[EUR][1000 genomes]
rs73695664	0.92[EUR][1000 genomes]
rs73695666	0.92[EUR][1000 genomes]
rs73695667	0.92[EUR][1000 genomes]
rs73695668	0.92[EUR][1000 genomes]
rs73695669	0.92[EUR][1000 genomes]
rs73695670	0.92[EUR][1000 genomes]
rs73695671	0.92[EUR][1000 genomes]
rs73695672	0.92[EUR][1000 genomes]
rs73695673	0.92[EUR][1000 genomes]
rs73695681	1.00[EUR][1000 genomes]
rs73695682	1.00[EUR][1000 genomes]
rs73695683	1.00[EUR][1000 genomes]
rs73695684	1.00[EUR][1000 genomes]
rs73695700	1.00[EUR][1000 genomes]
rs73695701	1.00[EUR][1000 genomes]
rs73695702	1.00[EUR][1000 genomes]
rs73697528	1.00[EUR][1000 genomes]
rs73697574	1.00[EUR][1000 genomes]
rs930707	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9942578	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv888021	chr7:50538589-50610071	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50565200-50609000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr7:50595200-50604600	Genic enhancers	Fetal Intestine Small	intestine
3	chr7:50597200-50603600	Weak transcription	Liver	Liver
4	chr7:50600200-50612600	Weak transcription	Small Intestine	intestine
5	chr7:50600600-50619400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:50601400-50603600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:50601400-50603800	Enhancers	Placenta	Placenta
8	chr7:50601600-50603600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:50601600-50603600	Enhancers	NHLF	lung
10	chr7:50601600-50631400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr7:50601800-50603600	Enhancers	HMEC	breast
12	chr7:50602000-50603600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr7:50602000-50603600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr7:50602200-50603600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:50602200-50603600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:50602200-50603600	Enhancers	NH-A	brain
17	chr7:50602200-50603800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:50602200-50603800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:50602400-50603600	Genic enhancers	Duodenum Mucosa	Duodenum
20	chr7:50602400-50603600	Enhancers	Osteobl	bone
21	chr7:50602400-50604200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:50602400-50604200	Enhancers	NHDF-Ad	bronchial
23	chr7:50602600-50618200	Weak transcription	Pancreas	Pancrea
24	chr7:50602800-50603600	Enhancers	HSMM	muscle
25	chr7:50602800-50603600	Enhancers	HSMMtube	muscle
26	chr7:50602800-50603600	Enhancers	NHEK	skin
27	chr7:50602800-50604200	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr7:50602800-50604400	Enhancers	Hela-S3	cervix
29	chr7:50602800-50604400	Weak transcription	HepG2	liver
30	chr7:50602800-50606400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr7:50602800-50609600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:50602800-50610200	Weak transcription	Colonic Mucosa	Colon
33	chr7:50602800-50613800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr7:50603200-50604000	Genic enhancers	Fetal Intestine Large	intestine
35	chr7:50603200-50606000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:50603400-50603600	Enhancers	A549	lung
37	chr7:50603400-50603800	Enhancers	K562	blood
38	chr7:50603400-50604200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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