Variant report

Variant	rs11837218
Chromosome Location	chr12:64253778-64253779
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:64243148..64249002-chr12:64249405..64253780,7	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17099872	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17099873	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17099879	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2751110	chr12:63939733-64274680	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv832442	chr12:64228071-64442771	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv1810729	chr12:64234926-64268005	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
5	esv1797043	chr12:64237504-64256568	Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
6	esv1833454	chr12:64237504-64264837	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
7	esv1803717	chr12:64250221-64261249	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64240800-64256000	Weak transcription	Small Intestine	intestine
2	chr12:64241000-64255600	Weak transcription	Left Ventricle	heart
3	chr12:64241000-64256000	Weak transcription	Fetal Muscle Leg	muscle
4	chr12:64241000-64256000	Weak transcription	HSMM	muscle
5	chr12:64241000-64257200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:64241000-64261200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:64241000-64268800	Weak transcription	Lung	lung
8	chr12:64241000-64278800	Weak transcription	Fetal Stomach	stomach
9	chr12:64243400-64263000	Weak transcription	NHEK	skin
10	chr12:64243600-64256200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:64244000-64256000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr12:64244000-64263600	Weak transcription	Fetal Lung	lung
13	chr12:64244400-64256000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:64244800-64255800	Weak transcription	Brain Anterior Caudate	brain
15	chr12:64246200-64254600	Weak transcription	Pancreas	Pancrea
16	chr12:64246200-64286400	Weak transcription	Fetal Brain Female	brain
17	chr12:64246400-64256000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:64246400-64256200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr12:64247600-64255200	Weak transcription	Ovary	ovary
20	chr12:64247800-64257400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr12:64247800-64268200	Weak transcription	Fetal Brain Male	brain
22	chr12:64248000-64256000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:64248000-64256200	Weak transcription	Fetal Kidney	kidney
24	chr12:64248200-64253800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:64248800-64255200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:64249200-64256200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:64250200-64287200	Weak transcription	Aorta	Aorta
28	chr12:64250800-64254400	Weak transcription	NHDF-Ad	bronchial
29	chr12:64250800-64256000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:64251000-64255200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:64251600-64254600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr12:64251800-64255400	Weak transcription	HMEC	breast
33	chr12:64251800-64256000	Weak transcription	NHLF	lung
34	chr12:64252000-64255200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr12:64252000-64255200	Weak transcription	Osteobl	bone
36	chr12:64252200-64254400	Weak transcription	Stomach Mucosa	stomach
37	chr12:64252200-64254400	Weak transcription	HepG2	liver
38	chr12:64252400-64254200	Weak transcription	Fetal Intestine Small	intestine
39	chr12:64252400-64254200	Weak transcription	Hela-S3	cervix
40	chr12:64252400-64256000	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr12:64252600-64255200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr12:64252600-64256000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:64252600-64256200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:64252800-64255200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:64253200-64254200	Weak transcription	Fetal Intestine Large	intestine
46	chr12:64253200-64254200	Weak transcription	A549	lung
47	chr12:64253200-64254600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:64253400-64256000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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