Variant report

Variant	rs12428960
Chromosome Location	chr13:111150825-111150826
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:111146550..111148284-chr13:111150740..111153734,2	K562	blood:
2	chr13:111137982..111139929-chr13:111150615..111152724,2	K562	blood:
3	chr13:111149836..111151933-chr13:111211909..111213452,2	K562	blood:
4	chr13:111145123..111148050-chr13:111150419..111153433,3	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7330111	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats 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	28 gene(s)	inside rSNPs	diseases
3	nsv430604	chr13:111095999-111156999	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv832720	chr13:111100235-111295993	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1046291	chr13:111125747-111257861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1045143	chr13:111126822-111242791	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv901009	chr13:111134780-111176393	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1044234	chr13:111143053-111370580	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	216 gene(s)	inside rSNPs	diseases
9	esv3324493	chr13:111148501-111151299	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111108800-111152200	Strong transcription	Fetal Intestine Small	intestine
2	chr13:111109000-111158800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr13:111109600-111155800	Strong transcription	Fetal Intestine Large	intestine
4	chr13:111109600-111158800	Strong transcription	Ovary	ovary
5	chr13:111109800-111152600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:111109800-111168000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr13:111117200-111152000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr13:111119200-111159200	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr13:111119600-111160400	Weak transcription	Brain Germinal Matrix	brain
10	chr13:111124400-111152000	Strong transcription	Osteobl	bone
11	chr13:111124400-111167400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr13:111125600-111157800	Weak transcription	Small Intestine	intestine
13	chr13:111127600-111153000	Weak transcription	Brain Substantia Nigra	brain
14	chr13:111127600-111156200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr13:111130600-111155400	Strong transcription	Left Ventricle	heart
16	chr13:111131000-111151200	Weak transcription	Right Atrium	heart
17	chr13:111131000-111151800	Strong transcription	HUVEC	blood vessel
18	chr13:111131000-111162800	Weak transcription	Fetal Brain Male	brain
19	chr13:111131400-111158000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr13:111131800-111159400	Weak transcription	Esophagus	oesophagus
21	chr13:111132200-111151800	Strong transcription	Adipose Nuclei	Adipose
22	chr13:111132200-111152200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr13:111132200-111158400	Strong transcription	Colon Smooth Muscle	Colon
24	chr13:111132200-111158600	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr13:111138800-111155400	Strong transcription	Stomach Smooth Muscle	stomach
26	chr13:111139600-111157800	Strong transcription	Placenta	Placenta
27	chr13:111139600-111166400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr13:111139600-111166600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr13:111139800-111155400	Strong transcription	Right Ventricle	heart
30	chr13:111139800-111155600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr13:111139800-111158000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr13:111140000-111151600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr13:111140200-111167200	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr13:111140800-111153000	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr13:111140800-111166600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr13:111141000-111152600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr13:111141000-111159000	Strong transcription	NHLF	lung
38	chr13:111141600-111165600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr13:111141800-111155400	Strong transcription	Spleen	Spleen
40	chr13:111143200-111156400	Weak transcription	Stomach Mucosa	stomach
41	chr13:111143400-111166800	Strong transcription	H9 Cell Line	embryonic stem cell
42	chr13:111143600-111159000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr13:111145200-111155800	Strong transcription	Fetal Muscle Trunk	muscle
44	chr13:111145400-111151800	Strong transcription	Fetal Muscle Leg	muscle
45	chr13:111145800-111160200	Weak transcription	Psoas Muscle	Psoas
46	chr13:111146000-111151200	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr13:111146200-111151800	Weak transcription	Liver	Liver
48	chr13:111146800-111151800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr13:111146800-111156200	Strong transcription	HSMM	muscle
50	chr13:111147000-111152000	Strong transcription	NHEK	skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links