Variant report

Variant	rs4763195
Chromosome Location	chr12:63162879-63162880
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:63158098..63159608-chr12:63162604..63165458,2	K562	blood:
2	chr12:62995380..62997043-chr12:63160693..63163072,2	MCF-7	breast:
3	chr12:63131484..63133718-chr12:63162471..63164846,2	MCF-7	breast:
4	chr12:63155609..63159608-chr12:63162125..63165442,4	K562	blood:

Variant related genes	Relation type
ENSG00000257354	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12814781	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs163684	0.87[CEU][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.85[EUR][1000 genomes]
rs163685	0.85[EUR][1000 genomes]
rs36070688	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559157	chr12:63142592-63163019	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv899160	chr12:63149213-63209623	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63140000-63168600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr12:63145800-63163400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:63145800-63169400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:63150000-63179800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:63153600-63163600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:63153600-63164000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:63153600-63171000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:63153800-63163200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:63154000-63163000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:63156000-63168000	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr12:63156400-63163200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:63157400-63165400	Weak transcription	Pancreas	Pancrea
13	chr12:63157600-63163200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:63157800-63163200	Strong transcription	HepG2	liver
15	chr12:63157800-63163600	Weak transcription	Right Atrium	heart
16	chr12:63158000-63163600	Weak transcription	Ovary	ovary
17	chr12:63158000-63166000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:63158200-63163600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr12:63158200-63164000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr12:63158200-63167600	Weak transcription	Fetal Intestine Large	intestine
21	chr12:63158600-63166800	Weak transcription	Left Ventricle	heart
22	chr12:63159000-63164400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr12:63160000-63163600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:63160200-63166600	Enhancers	A549	lung
25	chr12:63160400-63166600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:63160800-63164800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:63161000-63163000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr12:63161000-63163000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:63161000-63164200	Weak transcription	Brain Anterior Caudate	brain
30	chr12:63161000-63165200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:63161000-63165200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr12:63161200-63168200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr12:63161400-63180000	Weak transcription	Aorta	Aorta
34	chr12:63161600-63164400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:63161800-63163000	Weak transcription	Fetal Muscle Leg	muscle
36	chr12:63161800-63164400	Weak transcription	Gastric	stomach
37	chr12:63161800-63165800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:63161800-63167600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr12:63161800-63179400	Weak transcription	Brain Angular Gyrus	brain
40	chr12:63162000-63163000	Weak transcription	HSMMtube	muscle
41	chr12:63162000-63163200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:63162000-63163200	Weak transcription	HSMM	muscle
43	chr12:63162000-63166200	Weak transcription	NH-A	brain
44	chr12:63162000-63166200	Weak transcription	NHDF-Ad	bronchial
45	chr12:63162000-63170400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr12:63162200-63163200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr12:63162200-63163400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr12:63162200-63164000	Weak transcription	Fetal Intestine Small	intestine
49	chr12:63162200-63164800	Weak transcription	Fetal Brain Male	brain
50	chr12:63162200-63165200	Weak transcription	Brain Cingulate Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links