Variant report

Variant	rs530754662
Chromosome Location	chr12:120801467-120801468
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr12:120800948-120802374	SK-N-SH	brain:	n/a	n/a
2	CTCF	chr12:120801400-120801550	HRPEpiC	eye:	n/a	n/a
3	CTCF	chr12:120801440-120801590	WERI-Rb-1	eye:	n/a	n/a
4	RAD21	chr12:120801399-120801680	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr12:120801460-120801610	SK-N-SH_RA	brain:	n/a	n/a
6	MAX	chr12:120801461-120801629	K562	blood:	n/a	chr12:120801517-120801527
7	MAX	chr12:120801388-120801544	NB4	blood:	n/a	chr12:120801397-120801407 chr12:120801517-120801527 chr12:120801424-120801433
8	MAX	chr12:120801188-120801690	H1-hESC	embryonic stem cell:	n/a	chr12:120801397-120801407 chr12:120801517-120801527 chr12:120801424-120801433
9	MAX	chr12:120801380-120801657	H1-hESC	embryonic stem cell:	n/a	chr12:120801397-120801407 chr12:120801517-120801527 chr12:120801424-120801433
10	CTCF	chr12:120801460-120801610	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:120801365..120804968-chr12:120812471..120817033,4	K562	blood:
2	chr12:120799434..120804968-chr12:120812300..120816168,6	K562	blood:
3	chr12:120800502..120802375-chr12:120882088..120884770,2	MCF-7	breast:
4	chr12:120728315..120730053-chr12:120799765..120801702,2	MCF-7	breast:
5	chr12:120801326..120803208-chr12:120818906..120821369,2	MCF-7	breast:
6	chr12:120799433..120803407-chr12:120804628..120808209,5	K562	blood:

Variant related genes	Relation type
MSI1	TF binding region
ENSG00000170855	Chromatin interaction
ENSG00000257218	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000239881	Chromatin interaction
ENSG00000135097	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
2	nsv1047447	chr12:120645330-120808621	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
3	esv14211	chr12:120801254-120809932	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120780800-120803200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:120789400-120802000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr12:120795800-120804200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:120796200-120805000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:120798400-120801600	Enhancers	Fetal Brain Male	brain
6	chr12:120799600-120804000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
7	chr12:120799600-120804200	Weak transcription	Left Ventricle	heart
8	chr12:120800000-120801800	Enhancers	Fetal Muscle Leg	muscle
9	chr12:120800000-120802200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:120800000-120805000	Enhancers	Fetal Intestine Large	intestine
11	chr12:120800200-120801600	Enhancers	Brain Cingulate Gyrus	brain
12	chr12:120800200-120802200	Genic enhancers	H1 Cell Line	embryonic stem cell
13	chr12:120800200-120802600	Enhancers	Brain Anterior Caudate	brain
14	chr12:120800200-120803400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:120800200-120804000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:120800200-120804000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr12:120800200-120805200	Genic enhancers	Fetal Intestine Small	intestine
18	chr12:120800200-120805400	Weak transcription	Ovary	ovary
19	chr12:120800400-120801800	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr12:120800400-120802200	Genic enhancers	HUES6 Cell Line	embryonic stem cell
21	chr12:120800400-120802200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr12:120800400-120803000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:120800400-120803000	Weak transcription	Fetal Kidney	kidney
24	chr12:120800400-120804800	Enhancers	Duodenum Mucosa	Duodenum
25	chr12:120800400-120805000	Weak transcription	Esophagus	oesophagus
26	chr12:120800400-120805600	Weak transcription	Right Atrium	heart
27	chr12:120800600-120801800	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr12:120800600-120802600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:120800600-120802600	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
30	chr12:120800600-120803400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr12:120800600-120804400	Weak transcription	Fetal Heart	heart
32	chr12:120800600-120804600	Weak transcription	Right Ventricle	heart
33	chr12:120800800-120801600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:120800800-120801600	Enhancers	Small Intestine	intestine
35	chr12:120800800-120801800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr12:120800800-120802200	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
37	chr12:120800800-120802200	Weak transcription	Stomach Mucosa	stomach
38	chr12:120800800-120803200	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr12:120800800-120803600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr12:120800800-120804600	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr12:120800800-120804600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr12:120800800-120805000	Weak transcription	Brain Angular Gyrus	brain
43	chr12:120801000-120802000	Weak transcription	Fetal Lung	lung
44	chr12:120801000-120802800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr12:120801000-120803400	Strong transcription	Fetal Stomach	stomach
46	chr12:120801200-120801600	Weak transcription	Gastric	stomach
47	chr12:120801200-120803000	Weak transcription	Pancreas	Pancrea
48	chr12:120801200-120803200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr12:120801200-120804200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr12:120801400-120801600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links