Variant report

Variant	rs370319103
Chromosome Location	chr12:1700276-1700277
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1684651..1686904-chr12:1699807..1702010,2	K562	blood:
2	chr12:1691367..1694313-chr12:1697281..1700440,3	MCF-7	breast:
3	chr12:1697332..1701381-chr12:1702277..1705597,9	MCF-7	breast:
4	chr12:1401709..1403749-chr12:1700206..1701760,2	K562	blood:
5	chr12:1699624..1701795-chr12:1708636..1710140,2	MCF-7	breast:
6	chr12:1693823..1696197-chr12:1697644..1701450,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171823	Chromatin interaction

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

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	nsv529398	chr12:941915-1741311	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer 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	46 gene(s)	inside rSNPs	diseases
3	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv3397478	chr12:1535455-1730159	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv898584	chr12:1607390-1783251	Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv826180	chr12:1614395-1759431	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv826181	chr12:1619798-1754941	Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv898586	chr12:1690140-1734365	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv556979	chr12:1700134-1704325	Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1690400-1701000	Weak transcription	Gastric	stomach
2	chr12:1696600-1700800	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr12:1697000-1700800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:1698400-1700800	Weak transcription	Spleen	Spleen
5	chr12:1698600-1700600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr12:1698600-1700800	Enhancers	NHEK	skin
7	chr12:1698600-1701600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:1698800-1700600	Flanking Active TSS	Brain Germinal Matrix	brain
9	chr12:1698800-1701000	Flanking Active TSS	Fetal Brain Female	brain
10	chr12:1698800-1701400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
11	chr12:1698800-1701800	Enhancers	Fetal Heart	heart
12	chr12:1699000-1700400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
13	chr12:1699200-1700400	Flanking Active TSS	HSMMtube	muscle
14	chr12:1699200-1701200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:1699200-1701200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:1699200-1701200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:1699200-1701600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:1699200-1701600	Enhancers	Pancreas	Pancrea
19	chr12:1699200-1702000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:1699200-1703200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:1699400-1700400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:1699400-1700400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr12:1699400-1700400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr12:1699400-1700400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:1699400-1700400	Flanking Active TSS	HSMM	muscle
26	chr12:1699400-1700600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr12:1699400-1700600	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr12:1699400-1700600	Active TSS	Stomach Smooth Muscle	stomach
29	chr12:1699400-1700800	Enhancers	HepG2	liver
30	chr12:1699400-1701200	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr12:1699400-1701200	Flanking Active TSS	GM12878-XiMat	blood
32	chr12:1699400-1701200	Flanking Active TSS	NH-A	brain
33	chr12:1699400-1701600	Enhancers	Primary hematopoietic stem cells	blood
34	chr12:1699400-1703000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr12:1699400-1703000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr12:1699400-1703000	Flanking Active TSS	Osteobl	bone
37	chr12:1699600-1700400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
38	chr12:1699600-1700400	Flanking Active TSS	Colon Smooth Muscle	Colon
39	chr12:1699600-1700400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr12:1699600-1700400	Flanking Active TSS	Fetal Lung	lung
41	chr12:1699600-1700400	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr12:1699600-1700600	Active TSS	Rectal Smooth Muscle	rectum
43	chr12:1699600-1700800	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr12:1699600-1701000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:1699600-1701200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:1699600-1701200	Flanking Active TSS	NHDF-Ad	bronchial
47	chr12:1699600-1701600	Enhancers	Primary B cells from peripheral blood	blood
48	chr12:1699600-1701800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr12:1699600-1702000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:1699600-1702000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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