Variant report

Variant	rs12064695
Chromosome Location	chr1:179008910-179008911
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr1:179007582-179009001	PBDE	blood:	n/a	chr1:179007844-179007853 chr1:179007840-179007856 chr1:179008292-179008301 chr1:179007726-179007737
2	TAL1	chr1:179008614-179009283	K562	blood:	n/a	n/a
3	NR2F2	chr1:179008212-179009531	K562	blood:	n/a	n/a
4	NR2F2	chr1:179008851-179009336	K562	blood:	n/a	n/a
5	STAT5A	chr1:179008898-179009395	K562	blood:	n/a	n/a
6	TRIM28	chr1:179008889-179009449	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:179006443..179009675-chr1:179013601..179018312,6	K562	blood:
2	chr1:179006443..179009828-chr1:179013760..179016314,4	K562	blood:
3	chr1:179006880..179009225-chr1:179012117..179015129,3	MCF-7	breast:
4	chr1:179008660..179014261-chr1:179016259..179020723,5	MCF-7	breast:
5	chr1:179008445..179010356-chr1:179011829..179013367,2	K562	blood:

Variant related genes	Relation type
ENSG00000232750	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10157463	0.82[AFR][1000 genomes]
rs11808217	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12066589	0.82[AFR][1000 genomes]
rs12071751	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12075028	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12079974	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12083856	0.81[AMR][1000 genomes]
rs16853551	0.87[EUR][1000 genomes]
rs16853619	0.81[AMR][1000 genomes]
rs3766633	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs3766634	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7552470	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9726948	0.81[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3375162	chr1:179008554-179011102	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:178996200-179009200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:178996400-179011200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:178998400-179027400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:178999000-179009600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:179001200-179009600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr1:179001600-179017000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:179001800-179016200	Weak transcription	Aorta	Aorta
8	chr1:179002000-179019200	Weak transcription	Adipose Nuclei	Adipose
9	chr1:179003600-179009200	Weak transcription	Right Ventricle	heart
10	chr1:179003800-179011200	Weak transcription	Thymus	Thymus
11	chr1:179003800-179025800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:179004000-179011000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:179004200-179009200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr1:179004200-179010800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr1:179004200-179024200	Weak transcription	Liver	Liver
16	chr1:179004400-179012800	Weak transcription	Fetal Lung	lung
17	chr1:179004400-179013000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr1:179004400-179019200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr1:179004400-179024200	Weak transcription	Fetal Kidney	kidney
20	chr1:179004800-179011200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr1:179004800-179012200	Weak transcription	Spleen	Spleen
22	chr1:179004800-179024600	Weak transcription	Primary B cells from cord blood	blood
23	chr1:179005000-179009000	Enhancers	K562	blood
24	chr1:179005200-179016400	Weak transcription	Left Ventricle	heart
25	chr1:179005600-179009000	Enhancers	NHEK	skin
26	chr1:179005800-179009000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:179006000-179024200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr1:179006400-179011400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr1:179006400-179016200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:179006400-179024800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr1:179006400-179032400	Weak transcription	Esophagus	oesophagus
32	chr1:179006800-179024200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr1:179007000-179024200	Weak transcription	HUVEC	blood vessel
34	chr1:179007400-179016400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr1:179007600-179011200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:179007600-179011200	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr1:179007600-179012000	Weak transcription	Lung	lung
38	chr1:179007600-179012200	Weak transcription	Pancreas	Pancrea
39	chr1:179007600-179024200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:179008000-179011200	Weak transcription	Ovary	ovary
41	chr1:179008000-179019200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr1:179008000-179033000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr1:179008200-179009200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:179008200-179013200	Weak transcription	Fetal Brain Female	brain
45	chr1:179008400-179016400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr1:179008400-179021600	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr1:179008400-179023600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr1:179008400-179033000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr1:179008400-179041000	Weak transcription	Small Intestine	intestine
50	chr1:179008600-179009200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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