Variant report

Variant	rs11182300
Chromosome Location	chr12:44249025-44249026
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	chr12:44229192..44231344-chr12:44248420..44250942,2	K562	blood:

Variant related genes	Relation type
ENSG00000139173	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11182298	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182299	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182301	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11182303	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182304	0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182305	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11182308	1.00[ASN][1000 genomes]
rs11182310	1.00[ASN][1000 genomes]
rs11182314	0.97[ASN][1000 genomes]
rs11182323	0.94[ASN][1000 genomes]
rs11182331	0.82[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.81[ASN][1000 genomes]
rs11182334	0.81[ASN][1000 genomes]
rs11182336	0.81[ASN][1000 genomes]
rs12227646	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12228658	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12229491	1.00[ASN][1000 genomes]
rs12229940	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12230284	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12230727	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12230751	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12231136	0.91[ASN][1000 genomes]
rs12231953	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17093754	0.83[CHD][hapmap]
rs17093804	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1731432	1.00[JPT][hapmap]
rs1948516	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3829807	1.00[ASN][1000 genomes]
rs61930682	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs720944	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7296222	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs766961	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[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	nsv933142	chr12:44130156-44278300	Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv899048	chr12:44209423-44307888	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44230400-44250800	Weak transcription	Gastric	stomach
2	chr12:44230800-44250800	Weak transcription	Pancreas	Pancrea
3	chr12:44230800-44254800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:44230800-44260200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:44231000-44249800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr12:44231000-44251800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:44231000-44252200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:44231000-44254600	Weak transcription	GM12878-XiMat	blood
9	chr12:44231200-44261600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr12:44233400-44254400	Weak transcription	Left Ventricle	heart
11	chr12:44233600-44251200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr12:44234200-44254000	Weak transcription	Primary B cells from cord blood	blood
13	chr12:44234600-44260000	Weak transcription	Psoas Muscle	Psoas
14	chr12:44237800-44254200	Weak transcription	Small Intestine	intestine
15	chr12:44240400-44293000	Weak transcription	Aorta	Aorta
16	chr12:44241400-44254000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:44241600-44251800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:44241600-44252200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr12:44242800-44250800	Weak transcription	Esophagus	oesophagus
20	chr12:44243000-44258000	Weak transcription	Fetal Intestine Small	intestine
21	chr12:44243200-44252000	Weak transcription	HMEC	breast
22	chr12:44244400-44253200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:44244400-44257400	Weak transcription	Fetal Intestine Large	intestine
24	chr12:44244600-44253200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:44245800-44255400	Weak transcription	HSMM	muscle
26	chr12:44247000-44254200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:44248000-44250600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr12:44248000-44251800	Weak transcription	HSMMtube	muscle
29	chr12:44248200-44251800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:44248200-44252000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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