Variant report

Variant	rs9996560
Chromosome Location	chr4:95442692-95442693
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	chr4:95440363..95442905-chr4:95447523..95451305,3	K562	blood:
2	chr4:95438774..95443250-chr4:95444770..95449023,5	K562	blood:

Variant related genes	Relation type
ENSG00000163110	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10003483	1.00[CEU][hapmap]
rs10026467	1.00[CEU][hapmap]
rs10033876	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10440326	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10516952	1.00[CEU][hapmap]
rs11735827	1.00[CEU][hapmap]
rs17021720	0.86[JPT][hapmap]
rs17021775	1.00[CEU][hapmap]
rs2577055	0.81[GIH][hapmap]
rs28445841	0.93[EUR][1000 genomes]
rs28491414	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28595335	1.00[ASN][1000 genomes]
rs3792662	1.00[CEU][hapmap]
rs3792665	1.00[CEU][hapmap]
rs3805282	1.00[CEU][hapmap]
rs3805298	0.92[CHD][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs60191671	0.91[EUR][1000 genomes]
rs62316379	0.87[ASN][1000 genomes]
rs62319387	0.93[EUR][1000 genomes]
rs62319388	0.93[EUR][1000 genomes]
rs62319389	0.93[EUR][1000 genomes]
rs62321991	0.89[EUR][1000 genomes]
rs6843496	1.00[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	nsv993495	chr4:94992315-95482578	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv594901	chr4:95254730-95493246	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003743	chr4:95255957-95469831	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers 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	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95422400-95482800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:95430000-95456200	Weak transcription	Small Intestine	intestine
3	chr4:95430600-95444000	Weak transcription	HSMMtube	muscle
4	chr4:95435800-95444600	Enhancers	Fetal Heart	heart
5	chr4:95436400-95447200	Enhancers	Colon Smooth Muscle	Colon
6	chr4:95436800-95447800	Weak transcription	Fetal Intestine Small	intestine
7	chr4:95437200-95448400	Weak transcription	HSMM	muscle
8	chr4:95437400-95445000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:95437600-95456000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:95437800-95448600	Weak transcription	NHEK	skin
11	chr4:95438000-95448400	Weak transcription	Fetal Intestine Large	intestine
12	chr4:95438200-95448800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:95438200-95454600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr4:95438400-95454800	Weak transcription	Hela-S3	cervix
15	chr4:95438600-95445000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:95438800-95443800	Weak transcription	NHLF	lung
17	chr4:95438800-95444400	Weak transcription	HMEC	breast
18	chr4:95438800-95446800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:95438800-95448600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:95439000-95447000	Weak transcription	HepG2	liver
21	chr4:95439400-95448800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr4:95439800-95444600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr4:95440400-95443400	Genic enhancers	Osteobl	bone
24	chr4:95440400-95443800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr4:95440400-95444200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr4:95440400-95444800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:95440400-95446200	Weak transcription	Ovary	ovary
28	chr4:95440400-95447000	Weak transcription	Fetal Lung	lung
29	chr4:95440400-95448400	Weak transcription	Brain Substantia Nigra	brain
30	chr4:95440400-95455000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr4:95440600-95444200	Weak transcription	Psoas Muscle	Psoas
32	chr4:95440600-95447200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr4:95440600-95448400	Weak transcription	Aorta	Aorta
34	chr4:95440600-95448800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:95440600-95449000	Weak transcription	Fetal Muscle Leg	muscle
36	chr4:95440600-95449000	Weak transcription	Pancreas	Pancrea
37	chr4:95440600-95454200	Weak transcription	Fetal Stomach	stomach
38	chr4:95440600-95454600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr4:95440600-95454800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr4:95440600-95456200	Weak transcription	Spleen	Spleen
41	chr4:95440600-95456400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr4:95440600-95456600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr4:95440800-95446800	Weak transcription	Stomach Mucosa	stomach
44	chr4:95440800-95454200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr4:95441000-95451800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr4:95441200-95445600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:95441400-95443000	Enhancers	HUVEC	blood vessel
48	chr4:95441400-95443600	Weak transcription	Right Ventricle	heart
49	chr4:95441400-95444000	Weak transcription	Adipose Nuclei	Adipose
50	chr4:95441400-95444000	Weak transcription	NH-A	brain

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