Variant report

Variant	rs1308152
Chromosome Location	chr1:151679441-151679442
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:151678147-151680594	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr1:151675065-151679627	H1-neurons	neurons:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151582188..151584894-chr1:151679011..151681614,2	MCF-7	breast:
2	chr1:151677452..151679689-chr1:151734697..151737638,2	MCF-7	breast:
3	chr1:151677367..151680039-chr1:151802606..151805197,3	MCF-7	breast:
4	chr1:151678494..151680189-chr1:151689404..151690946,2	K562	blood:
5	chr1:151674334..151676569-chr1:151677711..151679757,3	MCF-7	breast:
6	chr1:151677595..151679984-chr1:151683063..151685340,3	K562	blood:

No data

Variant related genes	Relation type
RIIAD1	TF binding region
ENSG00000240510	TF binding region
ENSG00000143376	Chromatin interaction
ENSG00000143436	Chromatin interaction
ENSG00000143450	Chromatin interaction
ENSG00000143365	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1048694	0.92[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10888428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11204866	0.83[EUR][1000 genomes]
rs11586679	0.81[EUR][1000 genomes]
rs1196352	0.92[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap]
rs1196357	0.92[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap]
rs1196459	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1196464	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1196465	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1201651	0.92[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1211981	0.92[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1308137	0.88[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1308139	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1308143	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1308145	0.92[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1308146	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1308147	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1308148	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1308158	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1717128	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17641780	0.84[CEU][hapmap];0.87[EUR][1000 genomes]
rs1781434	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1891589	0.92[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap]
rs2460996	0.86[EUR][1000 genomes]
rs2489892	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2495392	0.92[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2495393	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2495394	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3204344	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs3790512	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6684548	0.85[EUR][1000 genomes]
rs6685067	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs6687866	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs6702842	0.87[CEU][hapmap]
rs7534887	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151663200-151683200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:151666000-151685400	Weak transcription	A549	lung
3	chr1:151667000-151687400	Weak transcription	K562	blood
4	chr1:151667800-151686000	Weak transcription	HMEC	breast
5	chr1:151669600-151681200	Strong transcription	Fetal Brain Female	brain
6	chr1:151670000-151689800	Weak transcription	Pancreas	Pancrea
7	chr1:151671400-151682600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:151672200-151680400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:151672400-151684800	Weak transcription	Small Intestine	intestine
10	chr1:151673800-151680400	Strong transcription	Fetal Intestine Large	intestine
11	chr1:151673800-151682400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr1:151673800-151685200	Weak transcription	Fetal Kidney	kidney
13	chr1:151674000-151682400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:151674000-151685400	Weak transcription	Gastric	stomach
15	chr1:151674200-151679800	Weak transcription	Right Ventricle	heart
16	chr1:151674200-151683200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:151674200-151683200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr1:151674200-151687400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr1:151674600-151681800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr1:151674600-151682400	Weak transcription	Brain Substantia Nigra	brain
21	chr1:151674600-151682600	Weak transcription	Brain Hippocampus Middle	brain
22	chr1:151674600-151683200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr1:151674600-151683200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:151674600-151685200	Weak transcription	Fetal Lung	lung
25	chr1:151674600-151686000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:151674800-151681800	Weak transcription	Brain Angular Gyrus	brain
27	chr1:151674800-151686200	Weak transcription	Esophagus	oesophagus
28	chr1:151675400-151681400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr1:151675800-151679600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr1:151675800-151681000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:151676200-151682400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:151676600-151680000	Weak transcription	Spleen	Spleen
33	chr1:151677000-151681800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:151677800-151679600	Enhancers	Duodenum Mucosa	Duodenum
35	chr1:151677800-151679800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr1:151678000-151679600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:151678000-151679600	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr1:151678000-151682000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr1:151678200-151680400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:151678400-151679600	Enhancers	Fetal Thymus	thymus
41	chr1:151678400-151680200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr1:151678600-151679600	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr1:151678800-151679600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:151678800-151679800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:151679000-151679800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:151679000-151682000	Weak transcription	Brain Anterior Caudate	brain
47	chr1:151679200-151679600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr1:151679200-151679600	Enhancers	Fetal Brain Male	brain
49	chr1:151679200-151679600	Genic enhancers	Fetal Intestine Small	intestine
50	chr1:151679200-151679800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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