Variant report

Variant	rs7730507
Chromosome Location	chr5:43627865-43627866
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43599902..43602064-chr5:43626032..43628822,2	K562	blood:
2	chr5:43627009..43629382-chr5:43631691..43634577,2	MCF-7	breast:
3	chr5:43555691..43557933-chr5:43625038..43627963,3	MCF-7	breast:
4	chr5:43626538..43628367-chr5:43634093..43636189,2	K562	blood:

Variant related genes	Relation type
ENSG00000172239	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11539647	1.00[AMR][1000 genomes]
rs16873497	1.00[AMR][1000 genomes]
rs6881601	0.85[YRI][hapmap]
rs7713421	1.00[AMR][1000 genomes]
rs7721864	0.87[YRI][hapmap]
rs7732990	1.00[AMR][1000 genomes]
rs7734126	0.86[AFR][1000 genomes];1.00[AMR][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	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv830275	chr5:43469511-43639384	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
3	nsv881108	chr5:43527432-43800333	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43604200-43631200	Weak transcription	A549	lung
2	chr5:43604400-43631200	Weak transcription	Pancreas	Pancrea
3	chr5:43604400-43635000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:43604400-43649200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:43604400-43649200	Weak transcription	Esophagus	oesophagus
6	chr5:43604400-43660600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:43604600-43649800	Weak transcription	Colonic Mucosa	Colon
8	chr5:43604800-43630200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr5:43604800-43630800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr5:43604800-43635400	Weak transcription	Gastric	stomach
11	chr5:43604800-43635400	Weak transcription	Spleen	Spleen
12	chr5:43604800-43649800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr5:43605000-43631200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:43605000-43631400	Weak transcription	Lung	lung
15	chr5:43605000-43656000	Weak transcription	Small Intestine	intestine
16	chr5:43606400-43633600	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr5:43606800-43648200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr5:43607800-43628200	Weak transcription	Fetal Intestine Small	intestine
19	chr5:43608400-43633600	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr5:43608400-43640600	Strong transcription	Dnd41	blood
21	chr5:43610600-43632200	Weak transcription	NHLF	lung
22	chr5:43610800-43649400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr5:43612600-43649400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr5:43612800-43647400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr5:43613200-43635400	Weak transcription	Aorta	Aorta
26	chr5:43613400-43645400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr5:43613800-43632600	Weak transcription	Ovary	ovary
28	chr5:43613800-43635400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:43613800-43646200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr5:43614000-43635600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr5:43614000-43647600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr5:43614200-43631400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr5:43614800-43631200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr5:43616000-43648200	Weak transcription	HepG2	liver
35	chr5:43616200-43628200	Weak transcription	Colon Smooth Muscle	Colon
36	chr5:43616600-43628200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr5:43617000-43635600	Weak transcription	Fetal Kidney	kidney
38	chr5:43617800-43632400	Weak transcription	NH-A	brain
39	chr5:43619000-43642800	Weak transcription	Fetal Brain Male	brain
40	chr5:43619200-43628200	Weak transcription	Brain Germinal Matrix	brain
41	chr5:43620000-43628200	Weak transcription	K562	blood
42	chr5:43620000-43634800	Weak transcription	Fetal Brain Female	brain
43	chr5:43620200-43628200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:43620200-43628200	Weak transcription	Primary B cells from peripheral blood	blood
45	chr5:43620200-43629200	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr5:43620200-43631200	Weak transcription	Adipose Nuclei	Adipose
47	chr5:43620200-43632200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr5:43620200-43632200	Weak transcription	Osteobl	bone
49	chr5:43620200-43632400	Weak transcription	HUVEC	blood vessel
50	chr5:43620200-43635400	Weak transcription	Duodenum Smooth Muscle	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links