Variant report

Variant	rs12895940
Chromosome Location	chr14:31462291-31462292
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31461174..31464156-chr14:31494227..31496386,3	MCF-7	breast:
2	chr14:31462254..31468952-chr14:31492285..31496312,7	MCF-7	breast:
3	chr14:31461833..31464355-chr14:31467976..31470646,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196792	Chromatin interaction
ENSG00000100478	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10047928	0.81[EUR][1000 genomes]
rs10140248	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10142411	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11156654	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624128	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624837	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12881165	1.00[ASN][1000 genomes]
rs12881677	1.00[ASN][1000 genomes]
rs12883240	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12885160	1.00[ASN][1000 genomes]
rs12886365	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12886419	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12889381	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12891080	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12892791	1.00[ASN][1000 genomes]
rs12894032	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12896432	0.81[EUR][1000 genomes]
rs12897351	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12898167	1.00[ASN][1000 genomes]
rs34399663	1.00[ASN][1000 genomes]
rs34869270	1.00[ASN][1000 genomes]
rs35941434	1.00[ASN][1000 genomes]
rs61976839	1.00[ASN][1000 genomes]
rs61976841	1.00[ASN][1000 genomes]
rs6571381	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67489064	1.00[ASN][1000 genomes]
rs7141291	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71427204	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7143908	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7145438	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7146946	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7151175	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154605	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8015705	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv901586	chr14:31365884-31465241	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1035937	chr14:31447842-31579660	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv542018	chr14:31447842-31579660	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv1048736	chr14:31447842-31624912	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31420200-31464400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:31441000-31464800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:31441600-31464200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr14:31442400-31494400	Weak transcription	Gastric	stomach
5	chr14:31443400-31493800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr14:31444000-31472800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr14:31444200-31464000	Weak transcription	Brain Anterior Caudate	brain
8	chr14:31451200-31464200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr14:31454800-31462800	Weak transcription	Fetal Intestine Small	intestine
10	chr14:31455200-31466400	Weak transcription	Primary T cells from cord blood	blood
11	chr14:31456000-31464400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr14:31456000-31465200	Weak transcription	Brain Angular Gyrus	brain
13	chr14:31457200-31465000	Weak transcription	Pancreas	Pancrea
14	chr14:31457200-31467600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr14:31457400-31467200	Weak transcription	Dnd41	blood
16	chr14:31457600-31464200	Weak transcription	Fetal Lung	lung
17	chr14:31457600-31467200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr14:31458200-31463800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:31458200-31463800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr14:31458400-31463800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr14:31458400-31463800	Weak transcription	Hela-S3	cervix
22	chr14:31458600-31463200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:31458600-31463800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:31458600-31463800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr14:31458600-31463800	Weak transcription	NH-A	brain
26	chr14:31458600-31463800	Weak transcription	NHDF-Ad	bronchial
27	chr14:31458600-31463800	Weak transcription	NHLF	lung
28	chr14:31458600-31463800	Weak transcription	Osteobl	bone
29	chr14:31458600-31464000	Weak transcription	HMEC	breast
30	chr14:31458600-31464400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr14:31458600-31465000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr14:31458600-31465000	Weak transcription	Fetal Stomach	stomach
33	chr14:31458600-31465200	Weak transcription	K562	blood
34	chr14:31458600-31467200	Weak transcription	Lung	lung
35	chr14:31458600-31494000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr14:31458800-31463800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr14:31459400-31463800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr14:31460000-31462400	Enhancers	Primary B cells from peripheral blood	blood
39	chr14:31460200-31463400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr14:31460200-31464200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr14:31460400-31462600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr14:31460400-31463600	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr14:31460400-31463800	Weak transcription	HSMMtube	muscle
44	chr14:31460400-31463800	Weak transcription	NHEK	skin
45	chr14:31460400-31464000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr14:31460400-31465000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr14:31460400-31465000	Weak transcription	Ovary	ovary
48	chr14:31460600-31463200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr14:31460600-31463400	Weak transcription	HSMM	muscle
50	chr14:31460600-31464000	Weak transcription	Fetal Heart	heart

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