Variant report

Variant	rs12479258
Chromosome Location	chr2:11718838-11718839
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11714285..11716170-chr2:11718112..11720675,2	K562	blood:
2	chr2:11269743..11271630-chr2:11718749..11720489,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs56109303	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv873663	chr2:11664349-11783775	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv1814335	chr2:11689048-11718858	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11678400-11757000	Weak transcription	Right Ventricle	heart
2	chr2:11694800-11755200	Weak transcription	Gastric	stomach
3	chr2:11697000-11722600	Weak transcription	Brain Hippocampus Middle	brain
4	chr2:11697000-11723000	Weak transcription	Brain Anterior Caudate	brain
5	chr2:11697000-11723200	Weak transcription	Brain Angular Gyrus	brain
6	chr2:11699800-11723000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:11700000-11767000	Weak transcription	Right Atrium	heart
8	chr2:11700200-11723000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:11702800-11720200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:11702800-11722400	Strong transcription	HepG2	liver
11	chr2:11704000-11720600	Weak transcription	Fetal Heart	heart
12	chr2:11707200-11720600	Weak transcription	Brain Substantia Nigra	brain
13	chr2:11707800-11722200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr2:11709800-11724200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr2:11710000-11722600	Weak transcription	Pancreas	Pancrea
16	chr2:11711200-11719000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:11711600-11723200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr2:11711600-11738600	Weak transcription	Left Ventricle	heart
19	chr2:11714400-11719000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr2:11714400-11765000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:11714600-11719600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr2:11714600-11720400	Weak transcription	Fetal Lung	lung
23	chr2:11714600-11722800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr2:11715600-11720600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr2:11715600-11722200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:11715800-11719000	Strong transcription	Ovary	ovary
27	chr2:11716600-11720800	Strong transcription	Fetal Muscle Trunk	muscle
28	chr2:11716600-11722000	Strong transcription	Fetal Stomach	stomach
29	chr2:11716600-11722400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:11716600-11722400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:11717000-11721400	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr2:11717200-11722000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:11717600-11767000	Weak transcription	Fetal Intestine Small	intestine
34	chr2:11718000-11719000	Enhancers	K562	blood
35	chr2:11718000-11719200	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr2:11718000-11719800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr2:11718200-11719000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr2:11718200-11719000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr2:11718200-11719400	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr2:11718400-11719200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr2:11718400-11719200	Strong transcription	Pancreatic Islets	Pancreatic Islet
42	chr2:11718600-11719000	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr2:11718600-11719000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:11718600-11719200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:11718800-11719000	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr2:11718800-11719200	Strong transcription	H9 Cell Line	embryonic stem cell
47	chr2:11718800-11719600	Strong transcription	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links