Variant report

Variant	rs11629300
Chromosome Location	chr14:31362837-31362838
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	MAFF	chr14:31362793-31363347	HepG2	liver:	n/a	chr14:31363175-31363193
2	POLR2A	chr14:31362626-31363002	HepG2	liver:	n/a	n/a
3	POLR2A	chr14:31354216-31363382	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31344633..31348046-chr14:31360601..31363457,3	MCF-7	breast:
2	chr14:31026920..31029917-chr14:31361039..31363904,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258525	TF binding region
ENSG00000100473	Chromatin interaction
ENSG00000092140	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11156656	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs12100679	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2295130	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs2295131	1.00[CHB][hapmap];0.92[CHD][hapmap]
rs28362787	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61976768	0.87[EUR][1000 genomes]
rs61976769	0.80[EUR][1000 genomes]
rs61976774	0.80[EUR][1000 genomes]
rs6571367	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs6571370	0.82[YRI][hapmap]
rs7142163	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs7142712	1.00[TSI][hapmap]
rs7146837	1.00[CHB][hapmap];0.92[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv832762	chr14:31238634-31414038	Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv564173	chr14:31358377-31400682	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv901584	chr14:31358377-31409010	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31345000-31435400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:31345200-31369200	Weak transcription	Pancreas	Pancrea
3	chr14:31345400-31363800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr14:31345400-31382600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:31346600-31364200	Weak transcription	Fetal Muscle Leg	muscle
6	chr14:31346600-31382600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr14:31347000-31384600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr14:31347000-31394800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr14:31347600-31363800	Weak transcription	Brain Anterior Caudate	brain
10	chr14:31348000-31372600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:31348200-31376800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr14:31350200-31363800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:31350200-31377800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr14:31350400-31363800	Weak transcription	Adipose Nuclei	Adipose
15	chr14:31350800-31363200	Weak transcription	NH-A	brain
16	chr14:31352000-31363800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:31352400-31363200	Weak transcription	HMEC	breast
18	chr14:31352600-31364200	Weak transcription	Left Ventricle	heart
19	chr14:31353400-31363800	Weak transcription	Fetal Intestine Large	intestine
20	chr14:31353400-31364200	Weak transcription	Brain Hippocampus Middle	brain
21	chr14:31353400-31367400	Weak transcription	NHLF	lung
22	chr14:31353400-31369200	Weak transcription	Fetal Intestine Small	intestine
23	chr14:31355200-31363800	Weak transcription	Fetal Lung	lung
24	chr14:31355200-31364400	Weak transcription	HSMMtube	muscle
25	chr14:31355200-31378400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:31355400-31363400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr14:31355400-31364400	Weak transcription	Lung	lung
28	chr14:31355800-31363600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr14:31355800-31364400	Weak transcription	Fetal Brain Female	brain
30	chr14:31355800-31414400	Weak transcription	Spleen	Spleen
31	chr14:31356000-31363200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr14:31356000-31364200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:31356000-31364400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr14:31356000-31369200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr14:31356200-31367200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr14:31356200-31378800	Weak transcription	Brain Germinal Matrix	brain
37	chr14:31356200-31412800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr14:31356400-31364400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr14:31357400-31363600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr14:31357800-31363800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr14:31357800-31370800	Weak transcription	K562	blood
42	chr14:31358000-31428200	Weak transcription	Small Intestine	intestine
43	chr14:31358400-31378400	Weak transcription	Aorta	Aorta
44	chr14:31358600-31364400	Weak transcription	GM12878-XiMat	blood
45	chr14:31358600-31364400	Weak transcription	NHEK	skin
46	chr14:31358800-31363800	Weak transcription	Psoas Muscle	Psoas
47	chr14:31358800-31364200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr14:31359000-31363800	Weak transcription	Dnd41	blood
49	chr14:31359200-31363200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr14:31359200-31371400	Weak transcription	HUVEC	blood vessel

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