Variant report

Variant	rs139678070
Chromosome Location	chr12:124495700-124495701
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:124440660..124443329-chr12:124494503..124496915,2	K562	blood:
2	chr12:124492436..124495836-chr12:124497804..124500865,3	K562	blood:
3	chr12:124491034..124493507-chr12:124494589..124496940,2	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	esv3493374	chr12:124458433-124496012	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv3493363	chr12:124458497-124495976	Strong transcription Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv3493385	chr12:124458565-124495928	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv820508	chr12:124495436-124500803	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv826535	chr12:124495436-124500803	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124461200-124496800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:124480600-124496200	Weak transcription	Small Intestine	intestine
3	chr12:124484400-124498400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:124485000-124498800	Strong transcription	Hela-S3	cervix
5	chr12:124486000-124496400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr12:124486400-124496200	Weak transcription	HMEC	breast
7	chr12:124486800-124496200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:124486800-124496200	Weak transcription	NHLF	lung
9	chr12:124487000-124495800	Weak transcription	Ovary	ovary
10	chr12:124488400-124498400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:124489200-124510400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:124489800-124496200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:124490400-124498800	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr12:124490400-124500400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:124490800-124496000	Weak transcription	Colon Smooth Muscle	Colon
16	chr12:124491000-124496200	Weak transcription	Gastric	stomach
17	chr12:124491000-124497000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:124491000-124497600	Weak transcription	Colonic Mucosa	Colon
19	chr12:124491200-124496200	Weak transcription	NHEK	skin
20	chr12:124491600-124498400	Strong transcription	Placenta	Placenta
21	chr12:124491600-124499400	Strong transcription	Duodenum Mucosa	Duodenum
22	chr12:124491800-124495800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:124491800-124496200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr12:124491800-124497800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr12:124492000-124496200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:124492000-124496200	Weak transcription	Spleen	Spleen
27	chr12:124492200-124496000	Weak transcription	HSMMtube	muscle
28	chr12:124492200-124496800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:124492200-124498000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:124492600-124496400	Weak transcription	Aorta	Aorta
31	chr12:124492600-124499200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:124492800-124496000	Weak transcription	GM12878-XiMat	blood
33	chr12:124492800-124496200	Weak transcription	HepG2	liver
34	chr12:124493000-124495800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:124493000-124496000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr12:124493000-124496200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr12:124493000-124496400	Weak transcription	Fetal Heart	heart
38	chr12:124493000-124500200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:124493000-124501400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr12:124493000-124501600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr12:124493000-124503200	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr12:124493200-124496800	Weak transcription	Stomach Mucosa	stomach
43	chr12:124493200-124501200	Strong transcription	Fetal Stomach	stomach
44	chr12:124493400-124495800	Weak transcription	Primary T cells from cord blood	blood
45	chr12:124493400-124496200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:124493400-124496200	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr12:124493400-124496200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr12:124493400-124496200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr12:124493400-124496200	Weak transcription	Thymus	Thymus
50	chr12:124493400-124497200	Weak transcription	Psoas Muscle	Psoas

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links