Variant report

Variant	rs61571577
Chromosome Location	chr2:47236436-47236437
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47235055..47237269-chr2:47239920..47242362,2	MCF-7	breast:
2	chr2:47235723..47238887-chr2:47238980..47241912,3	MCF-7	breast:
3	chr2:47232895..47237077-chr2:47401374..47404385,4	MCF-7	breast:
4	chr2:47226708..47229516-chr2:47234175..47237170,3	K562	blood:
5	chr2:47225653..47227816-chr2:47235641..47238681,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143933	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10190800	1.00[EUR][1000 genomes]
rs10196745	1.00[EUR][1000 genomes]
rs13413407	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13417534	1.00[EUR][1000 genomes]
rs13425939	1.00[EUR][1000 genomes]
rs13427848	1.00[EUR][1000 genomes]
rs55790905	1.00[EUR][1000 genomes]
rs73926325	1.00[EUR][1000 genomes]
rs73926945	1.00[EUR][1000 genomes]
rs73926985	1.00[EUR][1000 genomes]
rs73929353	1.00[EUR][1000 genomes]
rs919882	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
5	nsv524970	chr2:47162739-47302095	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS 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	20 gene(s)	inside rSNPs	diseases
6	nsv1000377	chr2:47189386-47344029	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv525197	chr2:47210747-47297973	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv517929	chr2:47217094-47243312	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv518312	chr2:47224927-47262137	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47213600-47256400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:47214000-47262000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:47214600-47242000	Strong transcription	Thymus	Thymus
4	chr2:47214800-47237200	Strong transcription	Primary T cells from cord blood	blood
5	chr2:47214800-47239200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr2:47215200-47243800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr2:47215600-47245200	Strong transcription	Primary B cells from peripheral blood	blood
8	chr2:47216400-47241600	Strong transcription	Fetal Thymus	thymus
9	chr2:47222000-47260600	Weak transcription	Small Intestine	intestine
10	chr2:47223400-47238400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr2:47223400-47239400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr2:47223600-47239400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:47223600-47246800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:47224800-47238400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:47229200-47243000	Enhancers	Fetal Brain Male	brain
16	chr2:47229200-47248600	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr2:47229600-47237000	Genic enhancers	Fetal Stomach	stomach
18	chr2:47230200-47236600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr2:47230200-47302800	Strong transcription	Dnd41	blood
20	chr2:47230600-47236600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:47230800-47243000	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr2:47231400-47242000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr2:47231400-47243000	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr2:47231600-47239400	Weak transcription	NHEK	skin
25	chr2:47231600-47241200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:47231600-47243000	Strong transcription	Placenta	Placenta
27	chr2:47231600-47243000	Weak transcription	HUVEC	blood vessel
28	chr2:47231800-47243800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:47232000-47240000	Weak transcription	Hela-S3	cervix
30	chr2:47232000-47241600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:47232000-47265000	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr2:47232200-47236800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:47232400-47241800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:47232400-47245000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr2:47232400-47257000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:47232800-47244000	Strong transcription	Esophagus	oesophagus
37	chr2:47233800-47237000	Enhancers	Left Ventricle	heart
38	chr2:47234000-47237000	Genic enhancers	HSMM	muscle
39	chr2:47234000-47237400	Enhancers	HSMMtube	muscle
40	chr2:47234200-47236600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:47234200-47236800	Genic enhancers	Spleen	Spleen
42	chr2:47234200-47237000	Enhancers	Right Atrium	heart
43	chr2:47234200-47237200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:47234200-47239200	Enhancers	Colon Smooth Muscle	Colon
45	chr2:47234400-47236600	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr2:47234400-47236800	Enhancers	Brain Substantia Nigra	brain
47	chr2:47234400-47237000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:47234400-47237400	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr2:47234400-47237600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:47234400-47238200	Weak transcription	Liver	Liver

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