Variant report

Variant	rs792871
Chromosome Location	chr12:31517960-31517961
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:31476716..31479416-chr12:31514975..31518554,5	K562	blood:
2	chr12:31476716..31479352-chr12:31516399..31518554,2	K562	blood:

Variant related genes	Relation type
ENSG00000177340	Chromatin interaction
ENSG00000139146	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1150942	0.81[CEU][hapmap];0.82[CHB][hapmap];0.81[AMR][1000 genomes]
rs1150943	0.84[AMR][1000 genomes]
rs1150945	0.84[AMR][1000 genomes]
rs1150953	0.84[CEU][hapmap]
rs1150954	0.94[CEU][hapmap];0.82[CHB][hapmap];0.84[AMR][1000 genomes]
rs1150955	0.84[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes]
rs1150963	0.81[AMR][1000 genomes]
rs1259233	0.84[AMR][1000 genomes]
rs1259235	0.85[CEU][hapmap]
rs1259241	0.81[AMR][1000 genomes]
rs1259353	0.84[AMR][1000 genomes]
rs1259354	0.81[AMR][1000 genomes]
rs1259405	0.90[CEU][hapmap]
rs1259409	0.94[CEU][hapmap];0.82[CHB][hapmap]
rs1259435	0.81[AMR][1000 genomes]
rs1259437	0.90[CEU][hapmap];0.83[CHB][hapmap];0.84[AMR][1000 genomes]
rs1259438	0.84[AMR][1000 genomes]
rs1259441	0.84[AMR][1000 genomes]
rs1262390	0.84[AMR][1000 genomes]
rs1272773	0.90[CEU][hapmap];0.83[CHB][hapmap];0.84[AMR][1000 genomes]
rs1716216	0.84[CEU][hapmap]
rs2374190	0.91[CHB][hapmap]
rs2568887	0.90[CEU][hapmap];0.91[CHB][hapmap];0.90[AMR][1000 genomes]
rs2568894	0.81[AMR][1000 genomes]
rs2568902	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2617178	0.84[AMR][1000 genomes]
rs2617191	0.83[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes]
rs2617200	0.85[CEU][hapmap]
rs2682671	0.90[AMR][1000 genomes]
rs2682677	0.87[AMR][1000 genomes]
rs2682679	0.81[AMR][1000 genomes]
rs2682695	0.89[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes]
rs2682697	0.82[CHB][hapmap]
rs708200	0.91[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs708212	0.90[CEU][hapmap];0.92[CHB][hapmap];0.90[AMR][1000 genomes]
rs708215	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs708217	0.89[CEU][hapmap];0.92[CHB][hapmap];0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs792875	0.90[AMR][1000 genomes]
rs793148	0.89[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes]
rs793149	0.90[AMR][1000 genomes]
rs793150	0.90[CEU][hapmap];0.92[CHB][hapmap];0.87[AMR][1000 genomes]
rs793158	0.90[CEU][hapmap];0.92[CHB][hapmap];0.90[AMR][1000 genomes]
rs793161	0.90[CEU][hapmap];0.91[CHB][hapmap];0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs793171	0.85[CEU][hapmap]
rs793173	0.84[AMR][1000 genomes]
rs793174	0.89[CEU][hapmap];0.83[CHB][hapmap];0.84[AMR][1000 genomes]
rs793177	0.83[CHB][hapmap];0.81[AMR][1000 genomes]
rs793186	0.89[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes]
rs793191	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs899159	0.83[CHB][hapmap]
rs976874	0.84[AMR][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	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv2751046	chr12:31174233-31684733	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv832364	chr12:31467990-31648144	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31480000-31522800	Weak transcription	Right Atrium	heart
2	chr12:31514800-31518200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:31515400-31518200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:31515600-31522400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:31515600-31522800	Weak transcription	Brain Hippocampus Middle	brain
6	chr12:31515800-31522800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:31516000-31521800	Weak transcription	Fetal Lung	lung
8	chr12:31516000-31521800	Weak transcription	Hela-S3	cervix
9	chr12:31516000-31523600	Weak transcription	Spleen	Spleen
10	chr12:31516200-31521200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:31516200-31521600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:31516200-31521600	Weak transcription	Lung	lung
13	chr12:31516200-31521800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:31516400-31521600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:31516400-31522400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr12:31516400-31522600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:31516400-31522600	Weak transcription	NHEK	skin
18	chr12:31516400-31523200	Weak transcription	K562	blood
19	chr12:31516600-31518200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:31516600-31521400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:31516600-31521800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:31516600-31521800	Weak transcription	Placenta	Placenta
23	chr12:31516600-31523200	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr12:31516800-31521000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr12:31516800-31521400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr12:31516800-31521400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr12:31516800-31521400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr12:31516800-31521600	Weak transcription	Stomach Mucosa	stomach
29	chr12:31516800-31521600	Weak transcription	A549	lung
30	chr12:31516800-31522200	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr12:31517000-31521400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr12:31517000-31521600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:31517000-31521600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:31517000-31521600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr12:31517000-31521800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:31517000-31522000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:31517200-31520800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:31517200-31521400	Weak transcription	Fetal Kidney	kidney
39	chr12:31517200-31521600	Weak transcription	Fetal Intestine Large	intestine
40	chr12:31517200-31521600	Weak transcription	Fetal Intestine Small	intestine
41	chr12:31517200-31521600	Weak transcription	Fetal Thymus	thymus
42	chr12:31517200-31522800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr12:31517400-31521000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr12:31517400-31521800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr12:31517600-31518200	Enhancers	H1 Cell Line	embryonic stem cell
46	chr12:31517600-31518200	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr12:31517800-31518000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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