Variant report

Variant	rs4731430
Chromosome Location	chr7:127905983-127905984
allele	C/T
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	EP300	chr7:127903042-127908864	SK-N-SH	brain:	n/a	chr7:127908281-127908290 chr7:127904263-127904277 chr7:127907612-127907628 chr7:127906148-127906161 chr7:127903955-127903968 chr7:127907600-127907616 chr7:127907282-127907296
2	CTCF	chr7:127905940-127906090	BE2_C	brain:	n/a	n/a
3	JUN	chr7:127905499-127908306	K562	blood:	n/a	chr7:127907282-127907295
4	GATA2	chr7:127905403-127906366	SH-SY5Y	brain:	n/a	chr7:127905681-127905688

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127905608..127907678-chr7:128056698..128059605,2	K562	blood:
2	chr7:127902720..127904313-chr7:127905525..127907918,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272915	TF binding region

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10276311	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4731424	0.81[EUR][1000 genomes]
rs7788818	0.85[CEU][hapmap]

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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv33413	chr7:127800064-127929303	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127899600-127906600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr7:127899600-127906800	Weak transcription	Fetal Kidney	kidney
3	chr7:127900200-127906200	Weak transcription	HSMMtube	muscle
4	chr7:127900200-127907000	Weak transcription	Colonic Mucosa	Colon
5	chr7:127900400-127906000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:127900600-127906000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr7:127900600-127906000	Weak transcription	HMEC	breast
8	chr7:127900800-127906000	Weak transcription	Fetal Intestine Large	intestine
9	chr7:127900800-127906800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:127901000-127906000	Weak transcription	Placenta	Placenta
11	chr7:127901200-127906400	Weak transcription	NHEK	skin
12	chr7:127901200-127906800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:127901400-127906000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr7:127903200-127906400	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr7:127903200-127907400	Enhancers	Stomach Mucosa	stomach
16	chr7:127903600-127906000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr7:127904000-127906000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr7:127904000-127906000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr7:127904000-127906000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr7:127904000-127906400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:127904000-127906800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:127904000-127911600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr7:127904200-127907000	Enhancers	Adipose Nuclei	Adipose
24	chr7:127904400-127907200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr7:127904800-127906800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr7:127904800-127907600	Enhancers	Duodenum Mucosa	Duodenum
27	chr7:127905000-127906000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr7:127905000-127907000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:127905200-127907000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr7:127905400-127906200	Weak transcription	Esophagus	oesophagus
31	chr7:127905400-127906600	Weak transcription	Fetal Intestine Small	intestine
32	chr7:127905400-127906800	Weak transcription	Pancreas	Pancrea
33	chr7:127905400-127907200	Enhancers	Fetal Muscle Trunk	muscle
34	chr7:127905600-127906600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:127905800-127906800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:127905800-127907000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:127905800-127907200	Enhancers	HUES6 Cell Line	embryonic stem cell

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