Variant report

Variant	rs4964810
Chromosome Location	chr12:104888884-104888885
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104887555..104889139-chr12:104891204..104893677,2	K562	blood:
2	chr12:104876677..104879866-chr12:104887122..104889642,3	K562	blood:
3	chr12:104878866..104881673-chr12:104885573..104889432,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12315181	0.82[MEX][hapmap]
rs12578959	0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12580133	1.00[EUR][1000 genomes]
rs12581080	1.00[EUR][1000 genomes]
rs12581557	1.00[EUR][1000 genomes]
rs12581952	1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs17035647	1.00[EUR][1000 genomes]
rs17035692	1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs3751318	1.00[MEX][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3812797	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4964294	1.00[MEX][hapmap]
rs4964796	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4964803	1.00[EUR][1000 genomes]
rs4964804	1.00[EUR][1000 genomes]
rs4964816	0.83[AMR][1000 genomes]
rs7136717	1.00[EUR][1000 genomes]
rs7300417	1.00[EUR][1000 genomes]
rs7301678	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:86 , 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	chr12:104873200-104895400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:104875200-104895400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:104875200-104897000	Weak transcription	NHEK	skin
5	chr12:104875400-104904200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:104879600-104893200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:104880000-104890800	Weak transcription	Colonic Mucosa	Colon
8	chr12:104880000-104893000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:104880000-104897800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:104880600-104889000	Weak transcription	Fetal Stomach	stomach
11	chr12:104880600-104897000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr12:104881000-104889600	Weak transcription	Brain Hippocampus Middle	brain
13	chr12:104881200-104890600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr12:104881400-104890000	Weak transcription	Fetal Muscle Leg	muscle
15	chr12:104881600-104898600	Weak transcription	A549	lung
16	chr12:104882600-104889800	Weak transcription	Fetal Heart	heart
17	chr12:104882600-104893200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:104882600-104900600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr12:104884200-104890800	Weak transcription	Right Ventricle	heart
20	chr12:104884200-104898000	Weak transcription	Gastric	stomach
21	chr12:104885400-104891200	Genic enhancers	Dnd41	blood
22	chr12:104887000-104889200	Enhancers	Brain Anterior Caudate	brain
23	chr12:104887000-104889800	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr12:104887200-104889000	Enhancers	Adipose Nuclei	Adipose
25	chr12:104887200-104891200	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr12:104887200-104903000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr12:104887600-104889200	Flanking Active TSS	Osteobl	bone
28	chr12:104887600-104899400	Enhancers	Fetal Thymus	thymus
29	chr12:104887800-104889000	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr12:104887800-104889000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr12:104887800-104889200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:104887800-104889200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr12:104887800-104889200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:104887800-104889800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:104887800-104891000	Weak transcription	Primary B cells from cord blood	blood
36	chr12:104888000-104889000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:104888000-104889000	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr12:104888000-104889200	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr12:104888000-104890400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:104888000-104890600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr12:104888000-104897200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr12:104888000-104900200	Weak transcription	Brain Substantia Nigra	brain
43	chr12:104888200-104889000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr12:104888200-104889000	Active TSS	Ovary	ovary
45	chr12:104888200-104889200	Active TSS	Duodenum Mucosa	Duodenum
46	chr12:104888200-104889200	Active TSS	NHLF	lung
47	chr12:104888200-104890600	Weak transcription	Left Ventricle	heart
48	chr12:104888200-104890600	Weak transcription	Small Intestine	intestine
49	chr12:104888200-104890600	Weak transcription	Spleen	Spleen
50	chr12:104888200-104891400	Weak transcription	Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links