Variant report

Variant	rs12094004
Chromosome Location	chr1:70718098-70718099
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:70692896..70695423-chr1:70718003..70720357,3	K562	blood:
2	chr1:70717775..70720172-chr1:70724645..70726966,2	K562	blood:

Variant related genes	Relation type
ENSG00000116754	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs35985899	1.00[CHD][hapmap]
rs72929219	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1798518	chr1:70604106-70723347	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv1797140	chr1:70604106-70724622	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv871898	chr1:70681486-70723347	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1014292	chr1:70689215-70799065	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70688000-70819200	Weak transcription	Esophagus	oesophagus
2	chr1:70688400-70719400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:70688600-70719800	Strong transcription	Fetal Thymus	thymus
4	chr1:70689000-70718200	Strong transcription	Placenta	Placenta
5	chr1:70689200-70718600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:70689400-70719200	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:70689600-70719200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr1:70689600-70719200	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr1:70690200-70719800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:70690400-70719800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:70690600-70719200	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:70690800-70718200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:70690800-70718600	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr1:70690800-70719200	Strong transcription	Duodenum Mucosa	Duodenum
15	chr1:70692200-70718200	Strong transcription	Primary B cells from cord blood	blood
16	chr1:70692200-70719200	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr1:70692600-70718600	Strong transcription	NH-A	brain
18	chr1:70692800-70719000	Strong transcription	NHDF-Ad	bronchial
19	chr1:70692800-70719200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:70693200-70718600	Strong transcription	Osteobl	bone
21	chr1:70693200-70719200	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr1:70693400-70719000	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr1:70693600-70718200	Strong transcription	Stomach Smooth Muscle	stomach
24	chr1:70693600-70719200	Strong transcription	HUVEC	blood vessel
25	chr1:70693600-70719400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:70693600-70719600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:70693800-70718200	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr1:70693800-70718600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr1:70693800-70719200	Strong transcription	Primary T cells from cord blood	blood
30	chr1:70693800-70719200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:70693800-70719400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:70693800-70719600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:70693800-70719800	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr1:70694000-70719200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:70694000-70719200	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr1:70694000-70719200	Strong transcription	Dnd41	blood
37	chr1:70694000-70719400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:70694200-70719600	Strong transcription	HSMM	muscle
39	chr1:70695000-70719400	Strong transcription	Adipose Nuclei	Adipose
40	chr1:70696000-70719000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr1:70696600-70719400	Strong transcription	GM12878-XiMat	blood
42	chr1:70700600-70719400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:70700600-70738800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:70700800-70720000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:70701400-70719000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:70701400-70719400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:70702200-70718200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
48	chr1:70703200-70719000	Strong transcription	Brain Anterior Caudate	brain
49	chr1:70703400-70719400	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr1:70708400-70719000	Strong transcription	HMEC	breast

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