Variant report

Variant	rs12097596
Chromosome Location	chr1:150531360-150531361
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr1:150531314-150531713	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr1:150530405-150533057	K562	blood:	n/a	n/a
3	POLR2A	chr1:150527732-150552686	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr1:150530622-150553130	IMR90	lung:	n/a	n/a
5	POLR2A	chr1:150527621-150536074	K562	blood:	n/a	n/a
6	POLR2A	chr1:150530539-150552850	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr1:150531319-150531648	A549	lung:	n/a	n/a
8	POLR2A	chr1:150527678-150532952	K562	blood:	n/a	n/a
9	POLR2A	chr1:150531238-150532049	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr1:150531092-150531967	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr1:150531307-150531669	A549	lung:	n/a	n/a
12	POLR2A	chr1:150531018-150531747	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr1:150530470-150533218	K562	blood:	n/a	n/a
14	POLR2A	chr1:150531273-150532156	GM12878	blood:	n/a	n/a
15	POLR2A	chr1:150531141-150552175	A549	lung:	n/a	n/a
16	POLR2A	chr1:150529470-150537724	K562	blood:	n/a	n/a
17	POLR2A	chr1:150527707-150536765	K562	blood:	n/a	n/a
18	POLR2A	chr1:150531209-150531788	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr1:150527768-150537708	K562	blood:	n/a	n/a
20	POLR2A	chr1:150530632-150536076	K562	blood:	n/a	n/a
21	POLR2A	chr1:150531151-150531890	HUVEC	blood vessel:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150531236..150532751-chr17:57915642..57917496,2	MCF-7	breast:
2	chr1:150335216..150336742-chr1:150529512..150532436,2	MCF-7	breast:
3	chr1:150531290..150540028-chr1:150591374..150603951,29	MCF-7	breast:
4	chr1:150486269..150489101-chr1:150530293..150532763,2	MCF-7	breast:
5	chr1:150455871..150459967-chr1:150528884..150531556,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000237781	TF binding region
ENSG00000163125	Chromatin interaction
ENSG00000143374	Chromatin interaction
ENSG00000143420	Chromatin interaction
ENSG00000228126	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11810419	0.85[CHD][hapmap];0.91[JPT][hapmap]
rs12116970	0.85[CHD][hapmap]
rs16836442	0.85[CHD][hapmap]
rs16836940	0.85[CHD][hapmap]
rs16836943	0.85[CHD][hapmap]
rs34355066	0.93[EUR][1000 genomes]
rs34645101	0.93[EUR][1000 genomes]
rs3795702	1.00[JPT][hapmap]
rs4971044	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs6663989	0.91[JPT][hapmap]
rs7550234	0.93[EUR][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	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
2	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
3	esv1814231	chr1:150479528-150540117	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	71 gene(s)	inside rSNPs	diseases
4	nsv527379	chr1:150527354-150542128	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150521600-150532600	Weak transcription	Brain Angular Gyrus	brain
2	chr1:150522400-150532800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr1:150522600-150532200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:150522800-150532200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:150524000-150532600	Weak transcription	Primary T cells from cord blood	blood
6	chr1:150524600-150532000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:150524600-150532600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:150524600-150532600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr1:150524800-150531800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:150524800-150532200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr1:150525400-150531600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:150525400-150532200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr1:150525400-150532200	Weak transcription	Brain Anterior Caudate	brain
14	chr1:150525400-150532600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:150525400-150532600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:150525400-150532600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr1:150525400-150532600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:150525400-150532600	Weak transcription	Psoas Muscle	Psoas
19	chr1:150525400-150533600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr1:150525600-150532000	Weak transcription	Fetal Thymus	thymus
21	chr1:150525600-150533400	Weak transcription	Brain Germinal Matrix	brain
22	chr1:150525800-150531800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:150525800-150532400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:150525800-150532400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr1:150525800-150532600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:150525800-150532600	Weak transcription	A549	lung
27	chr1:150526000-150531800	Weak transcription	Right Atrium	heart
28	chr1:150526000-150532000	Strong transcription	Fetal Intestine Small	intestine
29	chr1:150526000-150532400	Weak transcription	HSMM	muscle
30	chr1:150526000-150532400	Weak transcription	Osteobl	bone
31	chr1:150526200-150531400	Weak transcription	Primary B cells from cord blood	blood
32	chr1:150526200-150532200	Weak transcription	Stomach Mucosa	stomach
33	chr1:150526200-150532400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr1:150526200-150533400	Weak transcription	Fetal Brain Male	brain
35	chr1:150526400-150531800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr1:150526600-150531800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr1:150526800-150532400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:150528400-150531400	Weak transcription	Fetal Heart	heart
39	chr1:150528400-150532200	Strong transcription	Esophagus	oesophagus
40	chr1:150528400-150532400	Weak transcription	Fetal Lung	lung
41	chr1:150528400-150532400	Weak transcription	HepG2	liver
42	chr1:150528400-150532600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr1:150528400-150532600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr1:150528600-150531800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr1:150528600-150531800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:150528600-150532000	Weak transcription	Fetal Intestine Large	intestine
47	chr1:150528600-150532600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr1:150528600-150532600	Weak transcription	NHEK	skin
49	chr1:150528600-150533200	Weak transcription	Aorta	Aorta
50	chr1:150528600-150533400	Weak transcription	Fetal Brain Female	brain

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