Variant report

Variant	rs7299314
Chromosome Location	chr12:64242886-64242887
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:64235116..64240404-chr12:64242494..64248805,7	MCF-7	breast:
2	chr12:64241662..64243647-chr12:64288984..64291005,2	MCF-7	breast:
3	chr12:64240320..64243216-chr12:64291651..64293921,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196935	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11175194	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11175195	0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12229174	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs12230811	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs17099867	1.00[CEU][hapmap]
rs17099869	1.00[CEU][hapmap]
rs56133429	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57966342	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58282814	0.82[EUR][1000 genomes]
rs67799338	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs68047317	0.92[ASN][1000 genomes]
rs73126620	0.82[EUR][1000 genomes]
rs7953487	0.92[ASN][1000 genomes]
rs9738559	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	esv2759905	chr12:63901801-64252172	Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv2758312	chr12:63910416-64252172	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	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
5	nsv832441	chr12:64063776-64252172	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64240400-64243600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:64240400-64243600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:64240400-64244400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:64240400-64247400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr12:64240600-64243200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:64240600-64244600	Enhancers	Fetal Intestine Large	intestine
7	chr12:64240600-64245800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr12:64240600-64246000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:64240800-64243000	Weak transcription	Brain Angular Gyrus	brain
10	chr12:64240800-64243200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr12:64240800-64243800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:64240800-64244200	Weak transcription	Right Atrium	heart
13	chr12:64240800-64245000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:64240800-64256000	Weak transcription	Small Intestine	intestine
15	chr12:64241000-64243000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr12:64241000-64243000	Weak transcription	Fetal Kidney	kidney
17	chr12:64241000-64243200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:64241000-64243200	Weak transcription	Brain Hippocampus Middle	brain
19	chr12:64241000-64243400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:64241000-64243600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr12:64241000-64243800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:64241000-64243800	Weak transcription	Stomach Mucosa	stomach
23	chr12:64241000-64245800	Weak transcription	Pancreas	Pancrea
24	chr12:64241000-64247000	Weak transcription	HepG2	liver
25	chr12:64241000-64247400	Weak transcription	Ovary	ovary
26	chr12:64241000-64251800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:64241000-64255600	Weak transcription	Left Ventricle	heart
28	chr12:64241000-64256000	Weak transcription	Fetal Muscle Leg	muscle
29	chr12:64241000-64256000	Weak transcription	HSMM	muscle
30	chr12:64241000-64257200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr12:64241000-64261200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr12:64241000-64268800	Weak transcription	Lung	lung
33	chr12:64241000-64278800	Weak transcription	Fetal Stomach	stomach
34	chr12:64241400-64243000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:64241600-64243200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:64241600-64243400	Enhancers	NHEK	skin
37	chr12:64241800-64244600	Enhancers	Fetal Intestine Small	intestine
38	chr12:64242000-64243000	Flanking Active TSS	A549	lung
39	chr12:64242000-64243400	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:64242000-64244400	Enhancers	Duodenum Mucosa	Duodenum
41	chr12:64242000-64244800	Enhancers	Brain Anterior Caudate	brain
42	chr12:64242200-64243800	Enhancers	Osteobl	bone
43	chr12:64242200-64244000	Flanking Active TSS	Fetal Brain Female	brain
44	chr12:64242200-64244000	Enhancers	Fetal Lung	lung
45	chr12:64242200-64244000	Enhancers	HMEC	breast
46	chr12:64242200-64244200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr12:64242200-64244200	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr12:64242200-64245600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr12:64242200-64245800	Weak transcription	Right Ventricle	heart
50	chr12:64242200-64246000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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