Variant report

Variant	rs539795330
Chromosome Location	chr12:46378479-46378480
allele	-/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46378411..46380674-chr12:46387535..46389678,2	K562	blood:
2	chr12:46372640..46375139-chr12:46376032..46378858,4	K562	blood:
3	chr12:46119117..46128831-chr12:46378175..46388065,20	MCF-7	breast:
4	chr12:46365772..46368016-chr12:46375925..46378868,2	K562	blood:
5	chr12:46121142..46128895-chr12:46378215..46381675,6	K562	blood:

Variant related genes	Relation type
ENSG00000273015	Chromatin interaction
ENSG00000189079	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv832397	chr12:46265990-46453733	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv983463	chr12:46377328-46403983	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46299000-46381000	Weak transcription	Brain Germinal Matrix	brain
2	chr12:46357000-46380400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:46357600-46380000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:46357800-46381200	Weak transcription	Fetal Kidney	kidney
5	chr12:46358800-46380600	Weak transcription	Spleen	Spleen
6	chr12:46360600-46380000	Weak transcription	Brain Angular Gyrus	brain
7	chr12:46360600-46381400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:46360600-46381800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr12:46360600-46383000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:46361400-46383200	Weak transcription	Lung	lung
11	chr12:46361800-46379600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:46362800-46383400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:46363200-46380200	Weak transcription	NHLF	lung
14	chr12:46363400-46380600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:46363600-46380600	Weak transcription	Fetal Stomach	stomach
16	chr12:46363600-46381800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:46364400-46379000	Weak transcription	Gastric	stomach
18	chr12:46366400-46379000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:46366400-46380200	Weak transcription	Thymus	Thymus
20	chr12:46366400-46380600	Weak transcription	Placenta	Placenta
21	chr12:46367400-46379000	Weak transcription	Fetal Intestine Large	intestine
22	chr12:46367400-46383200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:46367800-46380400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr12:46368200-46379200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr12:46368600-46380600	Weak transcription	NH-A	brain
26	chr12:46368800-46380600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:46369000-46379200	Weak transcription	NHDF-Ad	bronchial
28	chr12:46369200-46379200	Weak transcription	Fetal Muscle Leg	muscle
29	chr12:46369200-46380600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:46369400-46379200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr12:46369600-46380400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:46369600-46380400	Weak transcription	Pancreas	Pancrea
33	chr12:46369800-46379000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr12:46370000-46379800	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr12:46370000-46381000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr12:46370600-46378800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:46370800-46382800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr12:46372000-46381000	Weak transcription	Stomach Mucosa	stomach
39	chr12:46372200-46381000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr12:46372400-46379800	Weak transcription	Brain Hippocampus Middle	brain
41	chr12:46372400-46380800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr12:46372400-46381000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr12:46372400-46381200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr12:46372400-46383000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr12:46372600-46379000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr12:46372800-46381200	Weak transcription	Brain Substantia Nigra	brain
47	chr12:46373000-46380400	Weak transcription	Aorta	Aorta
48	chr12:46373000-46380800	Weak transcription	Ovary	ovary
49	chr12:46373000-46383400	Weak transcription	Esophagus	oesophagus
50	chr12:46373200-46382800	Enhancers	Primary T helper naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links