Variant report

Variant	rs1127958
Chromosome Location	chr7:150498809-150498810
allele	A/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	POLR2A	chr7:150498801-150498906	ProgFib	skin:	n/a	n/a
2	MAX	chr7:150498733-150499082	H1-hESC	embryonic stem cell:	n/a	n/a
3	SUZ12	chr7:150498235-150499076	H1-hESC	embryonic stem cell:	n/a	n/a
4	E2F6	chr7:150498361-150499098	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150490163..150495069-chr7:150496481..150500897,6	K562	blood:

Variant related genes	Relation type
TMEM176A	TF binding region
TMEM176B	TF binding region
ENSG00000106565	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55775933	0.82[ASN][1000 genomes]
rs741063	0.94[ASN][1000 genomes]
rs741066	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv967475	chr7:150323577-150610034	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv831187	chr7:150325913-150503500	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	esv3422811	chr7:150496544-150499392	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150495000-150499200	Active TSS	Liver	Liver
2	chr7:150495800-150499400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
3	chr7:150496200-150499000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr7:150496200-150499600	Active TSS	Rectal Smooth Muscle	rectum
5	chr7:150496400-150499000	Bivalent/Poised TSS	Fetal Kidney	kidney
6	chr7:150496600-150499000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
7	chr7:150496800-150499000	Active TSS	Ovary	ovary
8	chr7:150497400-150499000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
9	chr7:150497400-150499000	Active TSS	Spleen	Spleen
10	chr7:150498000-150499200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
11	chr7:150498000-150499200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
12	chr7:150498000-150499800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
13	chr7:150498200-150499000	Active TSS	Sigmoid Colon	Sigmoid Colon
14	chr7:150498400-150499000	Bivalent Enhancer	Fetal Thymus	thymus
15	chr7:150498400-150499400	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr7:150498400-150499600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
17	chr7:150498400-150499600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
18	chr7:150498600-150499000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
19	chr7:150498600-150499000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:150498600-150499000	Bivalent/Poised TSS	Esophagus	oesophagus
21	chr7:150498600-150499000	Enhancers	Right Ventricle	heart
22	chr7:150498600-150499400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:150498600-150499600	Flanking Active TSS	Colonic Mucosa	Colon
24	chr7:150498600-150499600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr7:150498600-150500400	Weak transcription	Left Ventricle	heart
26	chr7:150498600-150500800	Weak transcription	Right Atrium	heart
27	chr7:150498800-150499000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
28	chr7:150498800-150499000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
29	chr7:150498800-150499000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:150498800-150499000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
31	chr7:150498800-150499000	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
32	chr7:150498800-150499000	Flanking Active TSS	Fetal Intestine Large	intestine
33	chr7:150498800-150499000	Enhancers	Pancreas	Pancrea
34	chr7:150498800-150499000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
35	chr7:150498800-150499200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:150498800-150499200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
37	chr7:150498800-150499400	Weak transcription	Small Intestine	intestine
38	chr7:150498800-150499600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr7:150498800-150499800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
40	chr7:150498800-150501600	Enhancers	Placenta	Placenta
41	chr7:150498800-150502800	Weak transcription	Gastric	stomach
42	chr7:150498800-150503000	Weak transcription	Pancreatic Islets	Pancreatic Islet

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links