Variant report

Variant	rs12112383
Chromosome Location	chr7:129068025-129068026
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:129035804..129037354-chr7:129066432..129068615,2	K562	blood:
2	chr7:129065900..129068583-chr7:129073786..129076376,2	MCF-7	breast:
3	chr7:129046190..129048894-chr7:129067043..129069018,2	K562	blood:
4	chr7:129067445..129069207-chr7:129094343..129097094,2	K562	blood:
5	chr7:129046190..129048894-chr7:129067043..129069018,3	K562	blood:

Variant related genes	Relation type
ENSG00000128578	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17168678	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs17169087	1.00[EUR][1000 genomes]
rs1732008	1.00[EUR][1000 genomes]
rs35714254	1.00[EUR][1000 genomes]
rs610588	1.00[ASW][hapmap]
rs6953498	1.00[EUR][1000 genomes]
rs9641847	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv516498	chr7:128901429-129072024	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	esv3331483	chr7:128918442-129082887	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv428508	chr7:128946738-129114691	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv1015550	chr7:128992460-129111060	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv539122	chr7:128992460-129111060	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv831128	chr7:129063040-129240800	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129008400-129073200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr7:129016000-129071400	Weak transcription	Small Intestine	intestine
3	chr7:129017400-129069200	Weak transcription	Stomach Mucosa	stomach
4	chr7:129017400-129073000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr7:129018400-129070000	Weak transcription	Colon Smooth Muscle	Colon
6	chr7:129019400-129070800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:129027800-129070200	Weak transcription	HepG2	liver
8	chr7:129028400-129073000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:129029000-129070000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:129029200-129073200	Weak transcription	Brain Angular Gyrus	brain
11	chr7:129033800-129073600	Weak transcription	Right Ventricle	heart
12	chr7:129035600-129072600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr7:129035600-129073600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:129041600-129073400	Weak transcription	HMEC	breast
15	chr7:129043400-129072600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr7:129046600-129073400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr7:129048600-129073000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr7:129049600-129073400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr7:129052600-129068800	Weak transcription	Fetal Kidney	kidney
20	chr7:129052600-129073200	Weak transcription	GM12878-XiMat	blood
21	chr7:129054000-129069000	Weak transcription	Fetal Lung	lung
22	chr7:129058200-129072400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr7:129058600-129070400	Weak transcription	HSMM	muscle
24	chr7:129059400-129069400	Strong transcription	Duodenum Mucosa	Duodenum
25	chr7:129060200-129072600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:129061000-129072000	Weak transcription	A549	lung
27	chr7:129061200-129072600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr7:129061400-129068600	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr7:129061400-129069400	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr7:129061600-129072000	Weak transcription	NHDF-Ad	bronchial
31	chr7:129061800-129068600	Strong transcription	Liver	Liver
32	chr7:129061800-129070000	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr7:129062000-129068600	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr7:129062000-129069800	Strong transcription	Primary T cells from cord blood	blood
35	chr7:129062600-129068600	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr7:129062800-129069600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:129062800-129073200	Weak transcription	Psoas Muscle	Psoas
38	chr7:129062800-129073400	Weak transcription	Right Atrium	heart
39	chr7:129063000-129068200	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr7:129063200-129073200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr7:129064000-129069800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr7:129064000-129070200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:129064000-129073200	Weak transcription	Hela-S3	cervix
44	chr7:129064400-129068600	Strong transcription	Stomach Smooth Muscle	stomach
45	chr7:129064600-129069200	Strong transcription	Lung	lung
46	chr7:129064800-129072000	Weak transcription	Dnd41	blood
47	chr7:129064800-129073200	Weak transcription	Spleen	Spleen
48	chr7:129065000-129069200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr7:129065000-129072800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:129065000-129073200	Weak transcription	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links