Variant report

Variant	rs7960893
Chromosome Location	chr12:31851095-31851096
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:31849943..31852910-chr12:31881219..31883544,3	K562	blood:

Variant related genes	Relation type
ENSG00000151743	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10844000	0.84[ASW][hapmap];0.95[CEU][hapmap];0.89[GIH][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10844003	0.83[AMR][1000 genomes]
rs11051525	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11051541	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051545	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051555	0.83[AMR][1000 genomes]
rs11051559	0.95[CEU][hapmap];0.80[AMR][1000 genomes]
rs12813042	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12813399	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12813695	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes]
rs35517071	0.95[AMR][1000 genomes]
rs3850979	1.00[JPT][hapmap]
rs4272861	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7134951	0.88[AMR][1000 genomes]
rs7297921	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7300260	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7302229	0.91[AMR][1000 genomes]
rs7315065	0.87[YRI][hapmap]
rs7953551	0.83[AMR][1000 genomes]
rs7969019	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes]
rs7978407	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]

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	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv3432694	chr12:31801467-32109828	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription 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	33 gene(s)	inside rSNPs	diseases
5	nsv898966	chr12:31810126-31944985	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31822600-31862000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr12:31822600-31874200	Weak transcription	Right Ventricle	heart
3	chr12:31827000-31871800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:31827400-31855000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:31835600-31860200	Weak transcription	Fetal Kidney	kidney
6	chr12:31835800-31854800	Weak transcription	K562	blood
7	chr12:31836000-31857600	Weak transcription	A549	lung
8	chr12:31837000-31859400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:31837200-31852000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:31837200-31854400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:31837200-31860400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr12:31837200-31865000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr12:31837400-31854200	Weak transcription	HSMMtube	muscle
14	chr12:31837400-31854400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:31838600-31881000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr12:31839600-31855000	Weak transcription	Spleen	Spleen
17	chr12:31839800-31871800	Weak transcription	Gastric	stomach
18	chr12:31840200-31858200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr12:31840200-31859600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr12:31840200-31861800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:31840400-31851800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:31840600-31854400	Weak transcription	Placenta	Placenta
23	chr12:31841200-31857800	Weak transcription	Brain Angular Gyrus	brain
24	chr12:31841200-31860400	Weak transcription	Fetal Muscle Leg	muscle
25	chr12:31841400-31856000	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr12:31841600-31857200	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr12:31841600-31860200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr12:31841600-31870000	Weak transcription	Pancreas	Pancrea
29	chr12:31841800-31855800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:31842000-31860200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr12:31844600-31871800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr12:31845600-31860400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:31845800-31854600	Strong transcription	Fetal Thymus	thymus
34	chr12:31846000-31853200	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr12:31846200-31852600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr12:31846200-31854600	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr12:31846400-31854400	Weak transcription	Fetal Intestine Large	intestine
38	chr12:31846400-31860200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:31846400-31860200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:31846400-31862400	Weak transcription	Aorta	Aorta
41	chr12:31846400-31871800	Weak transcription	Lung	lung
42	chr12:31846600-31860200	Weak transcription	Fetal Lung	lung
43	chr12:31846800-31853400	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr12:31847000-31857600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr12:31847200-31857400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr12:31847800-31852000	Weak transcription	Fetal Stomach	stomach
47	chr12:31847800-31852400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr12:31847800-31852600	Weak transcription	Fetal Muscle Trunk	muscle
49	chr12:31847800-31860200	Weak transcription	Fetal Intestine Small	intestine
50	chr12:31847800-31860400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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