Variant report

Variant	rs11970421
Chromosome Location	chr6:34553163-34553164
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34552512..34555793-chr6:34557456..34559676,3	K562	blood:
2	chr6:34551284..34553223-chr6:34555958..34557670,2	MCF-7	breast:
3	chr6:34550788..34556388-chr6:34565460..34570894,5	K562	blood:
4	chr6:34553065..34556672-chr6:34559907..34563488,3	K562	blood:
5	chr6:34543493..34547191-chr6:34549783..34553774,3	MCF-7	breast:
6	chr6:34546025..34550946-chr6:34551862..34556143,7	K562	blood:
7	chr6:34552512..34555793-chr6:34557456..34559676,4	K562	blood:
8	chr6:34543118..34546056-chr6:34551704..34553815,2	K562	blood:
9	chr6:34548787..34550337-chr6:34551862..34554295,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000196114	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs16894102	0.89[CHB][hapmap];0.88[JPT][hapmap]
rs1964810	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2064253	0.83[ASN][1000 genomes]
rs2235571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2235572	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2252551	0.94[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs2294536	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2492862	0.93[ASN][1000 genomes]
rs2744952	0.90[ASN][1000 genomes]
rs2744962	0.89[ASN][1000 genomes]
rs2744963	1.00[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs2744966	1.00[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs2744967	0.94[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs2744968	0.93[CHB][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs2744970	0.92[ASN][1000 genomes]
rs2744975	0.80[ASN][1000 genomes]
rs2764199	0.89[CHB][hapmap]
rs2814950	0.94[CHB][hapmap];0.93[JPT][hapmap]
rs2814989	0.86[ASN][1000 genomes]
rs2814990	0.94[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs2814997	0.86[ASN][1000 genomes]
rs2814998	0.94[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs2815000	0.90[ASN][1000 genomes]
rs2815003	0.94[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs3800455	0.80[ASN][1000 genomes]
rs3800456	0.81[ASN][1000 genomes]
rs41438444	0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs4615374	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4618513	0.93[ASN][1000 genomes]
rs56987113	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs57994417	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58643640	0.90[ASN][1000 genomes]
rs6932930	0.94[CHB][hapmap]
rs6939345	0.88[CHB][hapmap];0.88[JPT][hapmap]
rs73413893	0.83[ASN][1000 genomes]
rs9296126	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv2758046	chr6:34382492-34714677	Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv2759418	chr6:34382492-34714677	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv885785	chr6:34404636-34874002	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv1033583	chr6:34471572-34828372	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv516578	chr6:34483015-34561585	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv885792	chr6:34507311-34607958	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv1025472	chr6:34509776-34555969	Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	nsv1033534	chr6:34516588-34555969	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
11	nsv885793	chr6:34520267-34886436	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
12	nsv823667	chr6:34533015-34592524	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv818410	chr6:34538544-34579431	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
14	nsv830640	chr6:34542489-34714677	Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS 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	24 gene(s)	inside rSNPs	diseases
15	esv988873	chr6:34548881-34557080	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11970421	UHRF1BP1	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34535600-34563200	Weak transcription	A549	lung
2	chr6:34536800-34554400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:34536800-34556600	Weak transcription	Hela-S3	cervix
4	chr6:34538000-34555400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr6:34540800-34554000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:34541600-34553200	Weak transcription	Lung	lung
7	chr6:34541800-34553400	Weak transcription	HepG2	liver
8	chr6:34542200-34555400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:34542400-34553800	Weak transcription	Liver	Liver
10	chr6:34544200-34555000	Weak transcription	Pancreas	Pancrea
11	chr6:34544600-34553600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:34544600-34553800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr6:34545000-34554400	Weak transcription	NHEK	skin
14	chr6:34545400-34554000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr6:34545800-34553200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr6:34546000-34554000	Weak transcription	Fetal Thymus	thymus
17	chr6:34546000-34559800	Weak transcription	HSMM	muscle
18	chr6:34546400-34555600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr6:34546600-34553200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr6:34547200-34553200	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr6:34547200-34555600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr6:34547200-34566800	Weak transcription	Aorta	Aorta
23	chr6:34547400-34553400	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr6:34547600-34555400	Weak transcription	Primary B cells from cord blood	blood
25	chr6:34547800-34554200	Weak transcription	Dnd41	blood
26	chr6:34548200-34554800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:34548800-34555400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr6:34548800-34561400	Weak transcription	Fetal Heart	heart
29	chr6:34549000-34555000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr6:34549000-34555200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr6:34549000-34564200	Strong transcription	Fetal Intestine Small	intestine
32	chr6:34549200-34553200	Weak transcription	Fetal Brain Female	brain
33	chr6:34549200-34554400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr6:34549400-34553600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr6:34549400-34554000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr6:34549400-34554200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr6:34549400-34554400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr6:34549400-34555200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:34549400-34559800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr6:34549400-34564400	Weak transcription	Brain Substantia Nigra	brain
41	chr6:34549600-34557200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr6:34549800-34564200	Strong transcription	Fetal Stomach	stomach
43	chr6:34550200-34557200	Weak transcription	Fetal Kidney	kidney
44	chr6:34550400-34553200	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr6:34551000-34554600	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr6:34551200-34553600	Weak transcription	Esophagus	oesophagus
47	chr6:34551400-34553600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr6:34551400-34554200	Enhancers	Right Atrium	heart
49	chr6:34551400-34559000	Strong transcription	Primary T cells from cord blood	blood
50	chr6:34551600-34553200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links