Variant report

Variant	rs12995378
Chromosome Location	chr2:36932392-36932393
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:36928366..36930832-chr2:36932347..36935302,2	MCF-7	breast:
2	chr2:36931946..36934651-chr2:36940635..36943330,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs35302087	1.00[AMR][1000 genomes]
rs36031300	1.00[AMR][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	nsv1010985	chr2:36707157-36942066	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv535642	chr2:36707157-36942066	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1007757	chr2:36838387-37011384	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv535643	chr2:36838387-37011384	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv873878	chr2:36908661-36942266	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36925600-36932600	Weak transcription	Right Atrium	heart
2	chr2:36927200-36932400	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr2:36927200-36932400	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr2:36929000-36938600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:36929200-36934000	Weak transcription	NH-A	brain
6	chr2:36929400-36932600	Weak transcription	Fetal Lung	lung
7	chr2:36929400-36934600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:36929600-36933600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:36930000-36933000	Weak transcription	Ovary	ovary
10	chr2:36930000-36934000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:36930000-36934000	Weak transcription	HMEC	breast
12	chr2:36930400-36934000	Weak transcription	Hela-S3	cervix
13	chr2:36931400-36933000	Enhancers	NHDF-Ad	bronchial
14	chr2:36931400-36933200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:36931400-36933600	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr2:36931400-36933800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr2:36931400-36934000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:36931400-36935400	Enhancers	Placenta Amnion	Placenta Amnion
19	chr2:36931600-36932400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:36931600-36932800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:36931600-36933200	Enhancers	Adipose Nuclei	Adipose
22	chr2:36931600-36933200	Enhancers	Osteobl	bone
23	chr2:36931600-36936000	Enhancers	Fetal Muscle Leg	muscle
24	chr2:36931800-36934400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:36931800-36937200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:36931800-36937200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:36932000-36932600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr2:36932000-36933000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr2:36932000-36933000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr2:36932000-36933200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr2:36932000-36933200	Weak transcription	HSMM	muscle
32	chr2:36932000-36934000	Weak transcription	HSMMtube	muscle
33	chr2:36932000-36936200	Enhancers	NHEK	skin
34	chr2:36932200-36932800	Weak transcription	NHLF	lung
35	chr2:36932200-36933200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:36932200-36934000	Weak transcription	Placenta	Placenta
37	chr2:36932200-36934400	Weak transcription	Esophagus	oesophagus
38	chr2:36932200-36935600	Enhancers	Fetal Stomach	stomach

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