Variant report

Variant	rs11182304
Chromosome Location	chr12:44250895-44250896
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:44249126..44251692-chr12:44253550..44257434,4	MCF-7	breast:
2	chr12:44229192..44231344-chr12:44248420..44250942,2	K562	blood:
3	chr12:44197746..44199436-chr12:44249235..44251144,2	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	0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182299	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182300	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]
rs11182301	0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11182303	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182305	0.98[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11182308	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182310	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182314	0.97[ASN][1000 genomes]
rs11182323	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11182331	0.81[ASN][1000 genomes]
rs11182334	0.81[ASN][1000 genomes]
rs11182336	0.81[ASN][1000 genomes]
rs12227646	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12228658	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12229491	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12229940	0.86[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12230284	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12230727	0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12230751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12231136	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12231953	0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17093804	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731432	1.00[JPT][hapmap]
rs1948516	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2199390	1.00[EUR][1000 genomes]
rs3829807	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61930682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs720944	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7296222	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs766961	0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44230800-44254800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr12:44230800-44260200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:44231000-44251800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:44231000-44252200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:44231000-44254600	Weak transcription	GM12878-XiMat	blood
6	chr12:44231200-44261600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr12:44233400-44254400	Weak transcription	Left Ventricle	heart
8	chr12:44233600-44251200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:44234200-44254000	Weak transcription	Primary B cells from cord blood	blood
10	chr12:44234600-44260000	Weak transcription	Psoas Muscle	Psoas
11	chr12:44237800-44254200	Weak transcription	Small Intestine	intestine
12	chr12:44240400-44293000	Weak transcription	Aorta	Aorta
13	chr12:44241400-44254000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:44241600-44251800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:44241600-44252200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr12:44243000-44258000	Weak transcription	Fetal Intestine Small	intestine
17	chr12:44243200-44252000	Weak transcription	HMEC	breast
18	chr12:44244400-44253200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr12:44244400-44257400	Weak transcription	Fetal Intestine Large	intestine
20	chr12:44244600-44253200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:44245800-44255400	Weak transcription	HSMM	muscle
22	chr12:44247000-44254200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:44248000-44251800	Weak transcription	HSMMtube	muscle
24	chr12:44248200-44251800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:44248200-44252000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:44250200-44252800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:44250800-44251000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:44250800-44251000	Enhancers	Esophagus	oesophagus
29	chr12:44250800-44251000	Enhancers	Gastric	stomach
30	chr12:44250800-44251000	Enhancers	Pancreas	Pancrea
31	chr12:44250800-44251000	Enhancers	Right Atrium	heart
32	chr12:44250800-44251400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet

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