Variant report

Variant	rs11543308
Chromosome Location	chr7:19744417-19744418
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:19744052..19746655-chr7:19747190..19748728,2	MCF-7	breast:
2	chr7:19740820..19745529-chr7:19747045..19749777,5	MCF-7	breast:
3	chr7:19743433..19745474-chr7:19746532..19749255,3	K562	blood:
4	chr11:11093304..11094946-chr7:19742471..19744480,2	K562	blood:

Variant related genes	Relation type
ENSG00000105849	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17141796	0.82[ASN][1000 genomes]
rs60873763	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73274022	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73274023	0.83[AFR][1000 genomes]
rs73274029	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73274032	0.82[ASN][1000 genomes]
rs73274033	0.82[ASN][1000 genomes]
rs73274035	0.82[ASN][1000 genomes]
rs73274039	0.82[ASN][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	nsv1018601	chr7:19272360-20008881	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1033223	chr7:19682192-20461375	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv538795	chr7:19682192-20461375	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv524807	chr7:19714156-19803925	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19729800-19745000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr7:19730400-19747400	Weak transcription	HSMMtube	muscle
3	chr7:19731000-19746000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:19731600-19746400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:19732400-19745400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr7:19732600-19747000	Weak transcription	Pancreas	Pancrea
7	chr7:19733000-19745600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:19733000-19747400	Weak transcription	Spleen	Spleen
9	chr7:19733800-19747000	Weak transcription	Osteobl	bone
10	chr7:19733800-19747400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr7:19734000-19745600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr7:19734000-19746000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:19734000-19746600	Weak transcription	Fetal Lung	lung
14	chr7:19734200-19746000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr7:19734200-19746800	Weak transcription	Psoas Muscle	Psoas
16	chr7:19734400-19747000	Weak transcription	Fetal Muscle Leg	muscle
17	chr7:19734400-19747400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr7:19734600-19746400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:19734800-19747000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:19734800-19748000	Weak transcription	Lung	lung
21	chr7:19735400-19744600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr7:19735400-19746000	Weak transcription	Fetal Brain Female	brain
23	chr7:19735400-19746400	Weak transcription	HMEC	breast
24	chr7:19735400-19747000	Weak transcription	Right Ventricle	heart
25	chr7:19735400-19747200	Weak transcription	Fetal Heart	heart
26	chr7:19735600-19745600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:19735600-19746800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr7:19735800-19746800	Weak transcription	Brain Angular Gyrus	brain
29	chr7:19735800-19747000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr7:19735800-19747000	Weak transcription	Small Intestine	intestine
31	chr7:19735800-19747000	Weak transcription	Thymus	Thymus
32	chr7:19735800-19747800	Weak transcription	Colonic Mucosa	Colon
33	chr7:19736000-19746600	Weak transcription	Brain Hippocampus Middle	brain
34	chr7:19736000-19748000	Weak transcription	Gastric	stomach
35	chr7:19736200-19747600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:19736400-19746600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr7:19736600-19745800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr7:19736600-19746800	Weak transcription	NHLF	lung
39	chr7:19736800-19746000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr7:19736800-19746400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr7:19736800-19746800	Weak transcription	Brain Substantia Nigra	brain
42	chr7:19737400-19747000	Weak transcription	Ovary	ovary
43	chr7:19737600-19745800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr7:19737800-19746600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr7:19738200-19745400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr7:19738200-19745600	Weak transcription	GM12878-XiMat	blood
47	chr7:19738200-19745800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr7:19738200-19746000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr7:19738200-19746400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:19738200-19746600	Weak transcription	NH-A	brain

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