Variant report

Variant	rs6773704
Chromosome Location	chr3:52163189-52163190
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:52069883..52072776-chr3:52161086..52163454,2	K562	blood:
2	chr3:52159946..52161599-chr3:52163092..52165339,2	K562	blood:
3	chr3:52162996..52167625-chr3:52168207..52172862,5	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12386365	0.84[AFR][1000 genomes]
rs12495536	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12496447	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12629791	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2334961	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28387060	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2878438	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs352152	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4687607	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4687805	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4687810	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6777340	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6778442	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6786592	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs731684	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs735768	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs747343	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs749995	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7616695	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7644325	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs893055	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9828327	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9851576	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9874939	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520211	chr3:51772347-52166147	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv519445	chr3:52004317-52367932	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
3	nsv876786	chr3:52041566-52236762	Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv984541	chr3:52055970-52285682	Genic enhancers Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv470572	chr3:52123313-52350212	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	103 gene(s)	inside rSNPs	diseases
6	nsv460537	chr3:52148233-52290550	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv590301	chr3:52148233-52290550	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
8	nsv508218	chr3:52155869-52290410	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52110600-52179400	Weak transcription	Brain Germinal Matrix	brain
2	chr3:52136800-52187200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:52140400-52178200	Strong transcription	Dnd41	blood
4	chr3:52144200-52163600	Weak transcription	Aorta	Aorta
5	chr3:52148600-52179800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr3:52152200-52164400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:52155200-52180000	Weak transcription	Fetal Intestine Large	intestine
8	chr3:52155200-52187200	Weak transcription	Colonic Mucosa	Colon
9	chr3:52156200-52178000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr3:52156200-52187600	Weak transcription	Primary T cells from cord blood	blood
11	chr3:52156600-52177800	Weak transcription	Fetal Brain Female	brain
12	chr3:52157200-52166400	Weak transcription	Esophagus	oesophagus
13	chr3:52157200-52171600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr3:52157200-52187600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr3:52157400-52164200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr3:52157400-52178200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr3:52157400-52187200	Weak transcription	Fetal Kidney	kidney
18	chr3:52157600-52165200	Weak transcription	GM12878-XiMat	blood
19	chr3:52157600-52178600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:52157800-52170200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr3:52158600-52164200	Weak transcription	Fetal Muscle Leg	muscle
22	chr3:52158600-52172000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr3:52159000-52164000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:52159800-52169200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr3:52160000-52163400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr3:52160200-52170200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr3:52160200-52179600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr3:52160400-52167200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr3:52160600-52164200	Weak transcription	HSMM	muscle
30	chr3:52160600-52164200	Weak transcription	HSMMtube	muscle
31	chr3:52160600-52182600	Weak transcription	NHDF-Ad	bronchial
32	chr3:52160800-52163200	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr3:52160800-52163600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr3:52160800-52169600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr3:52161000-52163200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr3:52161000-52163400	Weak transcription	Thymus	Thymus
37	chr3:52161200-52163400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr3:52161200-52163600	Weak transcription	Fetal Intestine Small	intestine
39	chr3:52161200-52166800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr3:52161200-52176400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr3:52161400-52163600	Weak transcription	Fetal Stomach	stomach
42	chr3:52161400-52169200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr3:52161400-52178000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr3:52162200-52163600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr3:52162400-52167800	Weak transcription	Fetal Thymus	thymus
46	chr3:52162400-52184800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr3:52162600-52164000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr3:52162600-52164600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr3:52162600-52165600	Weak transcription	Brain Anterior Caudate	brain
50	chr3:52162600-52165600	Weak transcription	Fetal Heart	heart

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