Variant report

Variant	rs2374397
Chromosome Location	chr12:104883476-104883477
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104879669..104882101-chr12:104882975..104884643,2	K562	blood:
2	chr12:104882770..104885599-chr12:104898967..104901298,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10778336	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10778337	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10861225	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11112078	0.91[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs1922265	0.82[ASN][1000 genomes]
rs34318061	0.83[ASN][1000 genomes]
rs34760349	0.95[ASN][1000 genomes]
rs3902812	0.90[ASN][1000 genomes]
rs6539155	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7133503	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7133525	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7137398	0.94[ASN][1000 genomes]
rs7953577	0.92[EUR][1000 genomes]
rs7956477	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7960741	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7963874	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7971806	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7976717	0.90[ASN][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	nsv832502	chr12:104833729-104908288	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv832504	chr12:104853331-105028245	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	nsv868	chr12:104858964-104895572	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1042647	chr12:104861494-104888494	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv3338893	chr12:104880122-104884520	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104869200-104899600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:104872800-104887000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:104873000-104887600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr12:104873200-104895400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:104875000-104887000	Weak transcription	Placenta	Placenta
6	chr12:104875200-104888000	Weak transcription	HMEC	breast
7	chr12:104875200-104895400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:104875200-104897000	Weak transcription	NHEK	skin
9	chr12:104875400-104904200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:104877800-104887000	Enhancers	Primary T cells fromperipheralblood	blood
11	chr12:104878000-104885400	Enhancers	Primary hematopoietic stem cells	blood
12	chr12:104878000-104886000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:104878600-104885000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr12:104879600-104893200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:104880000-104886800	Enhancers	Fetal Thymus	thymus
16	chr12:104880000-104890800	Weak transcription	Colonic Mucosa	Colon
17	chr12:104880000-104893000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:104880000-104897800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:104880400-104884000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr12:104880400-104887400	Weak transcription	Esophagus	oesophagus
21	chr12:104880600-104884600	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr12:104880600-104889000	Weak transcription	Fetal Stomach	stomach
23	chr12:104880600-104897000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr12:104881000-104883800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr12:104881000-104884000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:104881000-104887000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr12:104881000-104887200	Weak transcription	Adipose Nuclei	Adipose
28	chr12:104881000-104887800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:104881000-104887800	Weak transcription	HSMM	muscle
30	chr12:104881000-104889600	Weak transcription	Brain Hippocampus Middle	brain
31	chr12:104881200-104883600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:104881200-104887000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:104881200-104890600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr12:104881400-104883600	Weak transcription	Fetal Intestine Small	intestine
35	chr12:104881400-104883600	Weak transcription	Stomach Mucosa	stomach
36	chr12:104881400-104887400	Weak transcription	Left Ventricle	heart
37	chr12:104881400-104890000	Weak transcription	Fetal Muscle Leg	muscle
38	chr12:104881600-104883800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:104881600-104898600	Weak transcription	A549	lung
40	chr12:104882200-104883600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:104882200-104883800	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr12:104882200-104887800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:104882400-104883600	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr12:104882400-104883800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr12:104882400-104883800	Weak transcription	Right Ventricle	heart
46	chr12:104882600-104883600	Weak transcription	Primary B cells from cord blood	blood
47	chr12:104882600-104883600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr12:104882600-104883600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr12:104882600-104883600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr12:104882600-104883600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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