Variant report

Variant	rs12063774
Chromosome Location	chr1:170522668-170522669
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:170521900..170523572-chr1:170525449..170527847,2	K562	blood:
2	chr1:170501133..170503556-chr1:170521670..170524037,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231407	Chromatin interaction
ENSG00000120370	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4603185	1.00[AMR][1000 genomes]
rs6670724	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872543	chr1:170171083-170674903	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv533915	chr1:170258766-170725296	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 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	chr1:170502600-170523400	Weak transcription	Fetal Brain Male	brain
2	chr1:170503000-170523600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr1:170505000-170524800	Strong transcription	Dnd41	blood
4	chr1:170505400-170522800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:170507600-170523600	Strong transcription	Primary B cells from peripheral blood	blood
6	chr1:170507600-170524000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr1:170508000-170523000	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:170508200-170523400	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr1:170508200-170524400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:170508400-170523600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:170508400-170523600	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr1:170508400-170523800	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr1:170508400-170523800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:170508800-170524000	Strong transcription	Liver	Liver
15	chr1:170509800-170523600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr1:170512600-170527200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:170514000-170532000	Weak transcription	Brain Angular Gyrus	brain
18	chr1:170514200-170524000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr1:170514400-170526800	Weak transcription	Psoas Muscle	Psoas
20	chr1:170514400-170532000	Weak transcription	Small Intestine	intestine
21	chr1:170514600-170524400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:170515000-170523800	Strong transcription	HSMM	muscle
23	chr1:170515000-170524600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:170515200-170523000	Strong transcription	NHDF-Ad	bronchial
25	chr1:170515200-170523200	Strong transcription	Osteobl	bone
26	chr1:170515200-170524200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:170515600-170522800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:170516000-170524000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:170516200-170523200	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr1:170516400-170524000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:170516800-170526400	Weak transcription	Spleen	Spleen
32	chr1:170517200-170523600	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr1:170517200-170524000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:170517400-170523000	Weak transcription	Brain Germinal Matrix	brain
35	chr1:170517400-170523800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:170517400-170525000	Weak transcription	Fetal Intestine Small	intestine
37	chr1:170517400-170525800	Weak transcription	NHEK	skin
38	chr1:170517400-170527600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr1:170517400-170531800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr1:170517600-170523200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr1:170517600-170523800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr1:170517600-170524200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:170517600-170524200	Strong transcription	GM12878-XiMat	blood
44	chr1:170517600-170525600	Weak transcription	Pancreas	Pancrea
45	chr1:170517800-170523800	Weak transcription	Brain Substantia Nigra	brain
46	chr1:170519600-170523200	Weak transcription	Fetal Stomach	stomach
47	chr1:170519600-170526000	Weak transcription	Gastric	stomach
48	chr1:170519600-170526400	Weak transcription	Esophagus	oesophagus
49	chr1:170519600-170529200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr1:170519600-170531400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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