Variant report

Variant	rs61737029
Chromosome Location	chr3:52521380-52521381
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:52521310-52522069	GM12892	blood:	n/a	n/a
2	POLR2A	chr3:52521374-52522024	K562	blood:	n/a	n/a
3	POLR2A	chr3:52521330-52521975	GM12878	blood:	n/a	n/a
4	ZNF263	chr3:52521189-52522233	HEK293-T-REx	kidney:	n/a	chr3:52521526-52521547 chr3:52521493-52521514
5	POLR2A	chr3:52521350-52521759	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:52517904..52520222-chr3:52520994..52523318,2	K562	blood:

Variant related genes	Relation type
NISCH	TF binding region
ENSG00000010322	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs56898787	1.00[EUR][1000 genomes]
rs58781613	1.00[EUR][1000 genomes]
rs59528332	1.00[EUR][1000 genomes]
rs61734628	1.00[EUR][1000 genomes]
rs72965257	1.00[EUR][1000 genomes]
rs7641255	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876789	chr3:52247110-52575831	Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Genic enhancers Active TSS 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 miRNA target site	117 gene(s)	inside rSNPs	diseases
2	nsv834697	chr3:52400578-52579417	Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv876792	chr3:52430526-52575831	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv876793	chr3:52450043-52584787	Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer 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	esv1818902	chr3:52481406-52572056	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv984563	chr3:52516115-52867075	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
7	nsv590304	chr3:52517206-52529266	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52491600-52528000	Strong transcription	Thymus	Thymus
2	chr3:52491800-52524000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr3:52491800-52527000	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr3:52491800-52528200	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr3:52491800-52528200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr3:52493000-52527800	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr3:52498600-52527200	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr3:52499400-52527800	Strong transcription	Primary T cells from cord blood	blood
9	chr3:52499600-52529200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr3:52501600-52528800	Strong transcription	Fetal Intestine Small	intestine
11	chr3:52504200-52526600	Strong transcription	H9 Cell Line	embryonic stem cell
12	chr3:52504200-52526800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr3:52504200-52527400	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr3:52504200-52527400	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr3:52504200-52527600	Strong transcription	Dnd41	blood
16	chr3:52504200-52527800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:52504200-52528000	Strong transcription	Primary B cells from peripheral blood	blood
18	chr3:52504200-52528000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr3:52504200-52528600	Strong transcription	Brain Germinal Matrix	brain
20	chr3:52504400-52523600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr3:52504400-52523800	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr3:52504400-52527400	Strong transcription	Osteobl	bone
23	chr3:52504400-52527600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:52504400-52527600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr3:52504400-52528000	Strong transcription	Fetal Brain Female	brain
26	chr3:52504800-52521400	Strong transcription	Fetal Intestine Large	intestine
27	chr3:52504800-52523000	Strong transcription	HUVEC	blood vessel
28	chr3:52504800-52523800	Strong transcription	Duodenum Mucosa	Duodenum
29	chr3:52504800-52527400	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr3:52504800-52528000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr3:52505000-52527000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:52506200-52523600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr3:52506400-52527400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr3:52507400-52527800	Strong transcription	Fetal Thymus	thymus
35	chr3:52508000-52523000	Weak transcription	Stomach Mucosa	stomach
36	chr3:52508000-52532200	Weak transcription	K562	blood
37	chr3:52509400-52528000	Strong transcription	Gastric	stomach
38	chr3:52509600-52528200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr3:52510000-52524200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr3:52510000-52526400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr3:52510200-52526200	Strong transcription	Pancreas	Pancrea
42	chr3:52510600-52528600	Weak transcription	Fetal Brain Male	brain
43	chr3:52511400-52528000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr3:52513000-52523800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr3:52513400-52541400	Weak transcription	A549	lung
46	chr3:52513600-52530000	Weak transcription	Fetal Kidney	kidney
47	chr3:52514600-52523800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr3:52514600-52534200	Weak transcription	Small Intestine	intestine
49	chr3:52514800-52521800	Weak transcription	Psoas Muscle	Psoas
50	chr3:52514800-52523600	Strong transcription	Primary monocytes fromperipheralblood	blood

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