Variant report

Variant	rs12745672
Chromosome Location	chr1:150273976-150273977
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150272425..150274715-chr1:150283636..150285207,2	MCF-7	breast:
2	chr1:150273542..150277317-chr1:150288734..150292129,4	MCF-7	breast:
3	chr1:150272877..150274381-chr1:150274670..150277501,2	K562	blood:
4	chr1:150273843..150276533-chr1:150292946..150294730,3	MCF-7	breast:
5	chr1:150273449..150279043-chr1:150279801..150282340,7	MCF-7	breast:
6	chr1:150272515..150274604-chr1:150295107..150297514,2	K562	blood:
7	chr1:150264435..150268272-chr1:150270315..150275864,5	K562	blood:
8	chr1:150233016..150235237-chr1:150272943..150275487,2	K562	blood:
9	chr1:150272468..150277468-chr1:150279289..150286428,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000238526	Chromatin interaction
ENSG00000187145	Chromatin interaction
ENSG00000117360	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11799813	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11800656	1.00[ASN][1000 genomes]
rs11801190	1.00[ASN][1000 genomes]
rs11802612	1.00[ASN][1000 genomes]
rs11803448	1.00[ASN][1000 genomes]
rs11806171	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11807119	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11809332	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12723364	1.00[ASN][1000 genomes]
rs12724450	1.00[ASN][1000 genomes]
rs12729727	1.00[ASN][1000 genomes]
rs12730265	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12733783	0.93[EUR][1000 genomes]
rs12735903	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12743761	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12747619	1.00[CEU][hapmap]
rs12749958	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12756583	1.00[ASN][1000 genomes]
rs12759551	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs28495360	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34001546	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs34233130	1.00[ASN][1000 genomes]
rs34307322	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34347495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34448981	1.00[ASN][1000 genomes]
rs34514406	1.00[ASN][1000 genomes]
rs34542152	1.00[ASN][1000 genomes]
rs34609268	1.00[ASN][1000 genomes]
rs34964511	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35094010	1.00[ASN][1000 genomes]
rs35347210	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35437473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35762205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35839143	1.00[ASN][1000 genomes]
rs35935423	1.00[ASN][1000 genomes]
rs4845	1.00[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56214117	1.00[ASN][1000 genomes]
rs58427317	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58853199	1.00[ASN][1000 genomes]
rs71515775	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71622688	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71622689	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71622694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71622695	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71622696	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71622698	1.00[ASN][1000 genomes]
rs74124663	1.00[ASN][1000 genomes]
rs74124686	1.00[ASN][1000 genomes]
rs7517003	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7535275	1.00[ASN][1000 genomes]
rs7546610	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529719	chr1:150006344-150311095	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
3	nsv1011223	chr1:150229205-150279380	Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150267000-150274000	Weak transcription	Aorta	Aorta
2	chr1:150267000-150274200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:150267000-150274400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr1:150267000-150274400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:150267000-150274600	Weak transcription	Gastric	stomach
6	chr1:150267000-150274600	Weak transcription	Ovary	ovary
7	chr1:150267000-150280000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:150267000-150280000	Weak transcription	Small Intestine	intestine
9	chr1:150267000-150284000	Weak transcription	Brain Substantia Nigra	brain
10	chr1:150267000-150293200	Weak transcription	Stomach Mucosa	stomach
11	chr1:150267200-150274400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:150267200-150274400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr1:150267200-150274400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr1:150267200-150274400	Weak transcription	Fetal Kidney	kidney
15	chr1:150267200-150275600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr1:150267200-150276000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:150267200-150280000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:150267200-150280000	Weak transcription	Esophagus	oesophagus
19	chr1:150267200-150286400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:150267600-150274400	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:150267600-150274400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:150267600-150274400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr1:150267600-150275200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:150267600-150275400	Strong transcription	Fetal Stomach	stomach
25	chr1:150267600-150276400	Strong transcription	Primary B cells from peripheral blood	blood
26	chr1:150267600-150277800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:150267800-150274400	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:150267800-150276400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:150267800-150277000	Strong transcription	Adipose Nuclei	Adipose
30	chr1:150267800-150280800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr1:150267800-150281400	Strong transcription	Liver	Liver
32	chr1:150267800-150282000	Strong transcription	Fetal Muscle Trunk	muscle
33	chr1:150268000-150274000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:150268000-150274600	Strong transcription	Stomach Smooth Muscle	stomach
35	chr1:150268000-150275000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr1:150268000-150281000	Strong transcription	Fetal Muscle Leg	muscle
37	chr1:150268000-150281400	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr1:150268000-150282600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:150268000-150293200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr1:150268200-150274400	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr1:150268200-150274400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr1:150268200-150274400	Weak transcription	Brain Angular Gyrus	brain
43	chr1:150268200-150274600	Weak transcription	Spleen	Spleen
44	chr1:150268200-150275200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:150268200-150275400	Strong transcription	Fetal Intestine Small	intestine
46	chr1:150268200-150278800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:150268200-150279800	Weak transcription	Pancreas	Pancrea
48	chr1:150268200-150282600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:150268200-150282600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr1:150268200-150282800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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