Variant report

Variant	rs4731435
Chromosome Location	chr7:127912044-127912045
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127910354..127913433-chr7:127917206..127919846,3	K562	blood:
2	chr7:127910354..127914440-chr7:127916901..127919443,4	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10274395	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4731438	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57060449	0.83[EUR][1000 genomes]
rs7811892	0.83[EUR][1000 genomes]

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:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127908000-127912400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:127908000-127912400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr7:127908000-127913800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:127908200-127912600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr7:127908400-127921800	Weak transcription	HSMM	muscle
6	chr7:127910800-127912200	Enhancers	Liver	Liver
7	chr7:127910800-127912200	Enhancers	Spleen	Spleen
8	chr7:127910800-127912400	Bivalent Enhancer	Fetal Heart	heart
9	chr7:127910800-127912400	Enhancers	Placenta	Placenta
10	chr7:127910800-127912400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
11	chr7:127910800-127912600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:127911000-127912200	Active TSS	Brain Substantia Nigra	brain
13	chr7:127911000-127912200	Bivalent/Poised TSS	Psoas Muscle	Psoas
14	chr7:127911000-127912400	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr7:127911000-127912400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
16	chr7:127911000-127912400	Enhancers	HMEC	breast
17	chr7:127911000-127912400	Bivalent Enhancer	HUVEC	blood vessel
18	chr7:127911000-127912600	Enhancers	Pancreas	Pancrea
19	chr7:127911200-127912200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:127911200-127912200	Bivalent/Poised TSS	Colonic Mucosa	Colon
21	chr7:127911200-127912200	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr7:127911200-127912200	Flanking Active TSS	Placenta Amnion	Placenta Amnion
23	chr7:127911200-127912200	Active TSS	Right Atrium	heart
24	chr7:127911200-127912400	Flanking Bivalent TSS/Enh	Right Ventricle	heart
25	chr7:127911400-127912200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:127911400-127912200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:127911400-127912200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
28	chr7:127911400-127912200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
29	chr7:127911400-127912200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr7:127911400-127912200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr7:127911400-127912200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
32	chr7:127911400-127912200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
33	chr7:127911400-127912200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
34	chr7:127911400-127912400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:127911400-127912400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
36	chr7:127911400-127912600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr7:127911600-127912200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:127911600-127912200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
39	chr7:127911600-127912200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
40	chr7:127911600-127912200	Active TSS	Colon Smooth Muscle	Colon
41	chr7:127911600-127912200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
42	chr7:127911600-127912200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
43	chr7:127911600-127912200	Bivalent/Poised TSS	NHLF	lung
44	chr7:127911600-127912400	Active TSS	Brain Angular Gyrus	brain
45	chr7:127911600-127912600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr7:127911600-127912600	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr7:127911600-127912600	Bivalent Enhancer	Fetal Brain Male	brain
48	chr7:127911600-127913400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr7:127911800-127912200	Enhancers	Primary hematopoietic stem cells	blood
50	chr7:127911800-127912200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links