Variant report

Variant	rs56660187
Chromosome Location	chr1:173802110-173802111
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:173789792..173811494-chr1:173827886..173840273,103	K562	blood:
2	chr1:173797962..173800700-chr1:173800867..173803540,2	MCF-7	breast:
3	chr1:173792969..173796539-chr1:173801362..173804068,3	MCF-7	breast:
4	chr1:173793004..173797584-chr1:173798282..173803752,9	MCF-7	breast:
5	chr1:173799840..173802662-chr1:173904585..173906470,2	K562	blood:
6	chr1:173789473..173804179-chr1:173828884..173842109,95	K562	blood:
7	chr1:173799694..173802384-chr1:173807706..173810121,2	MCF-7	breast:
8	chr1:173801349..173803669-chr1:173807043..173808989,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000120334	Chromatin interaction
ENSG00000117593	Chromatin interaction
ENSG00000234741	Chromatin interaction
ENSG00000208317	Chromatin interaction
ENSG00000270084	Chromatin interaction
ENSG00000185278	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs2126126	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28865644	0.92[AFR][1000 genomes]
rs35515638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57520670	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58193236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58356308	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60228238	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60656154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61286800	0.97[AFR][1000 genomes]
rs6425260	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6663103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6674573	1.00[AMR][1000 genomes]
rs6694637	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73031308	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73031331	1.00[AMR][1000 genomes]
rs73033104	1.00[AMR][1000 genomes]
rs73033138	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73035115	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73035123	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73035125	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73035130	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73035152	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73035157	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73035162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73037024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73037030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73037052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73037062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7516013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7534260	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7534982	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7537349	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7542542	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7542780	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
2	nsv831926	chr1:173702403-173894667	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	291 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	chr1:173794200-173804000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:173794400-173806800	Weak transcription	Spleen	Spleen
3	chr1:173794400-173812600	Weak transcription	Small Intestine	intestine
4	chr1:173794400-173832800	Weak transcription	Fetal Heart	heart
5	chr1:173794600-173803200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr1:173794600-173804000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:173794600-173805200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:173794600-173805800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr1:173794600-173805800	Weak transcription	NH-A	brain
10	chr1:173794600-173806000	Weak transcription	HSMMtube	muscle
11	chr1:173794600-173808600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr1:173794600-173809600	Weak transcription	Fetal Kidney	kidney
13	chr1:173794600-173810600	Weak transcription	Ovary	ovary
14	chr1:173794600-173812400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:173794600-173812600	Weak transcription	Aorta	Aorta
16	chr1:173794600-173813000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:173794600-173814600	Weak transcription	Esophagus	oesophagus
18	chr1:173794600-173820600	Weak transcription	NHLF	lung
19	chr1:173794600-173821800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:173794600-173821800	Weak transcription	Pancreas	Pancrea
21	chr1:173794600-173822000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr1:173794600-173832000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr1:173794600-173832000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:173794600-173832600	Weak transcription	Brain Substantia Nigra	brain
25	chr1:173794600-173833800	Weak transcription	Stomach Mucosa	stomach
26	chr1:173794800-173808200	Weak transcription	Fetal Brain Female	brain
27	chr1:173794800-173809400	Weak transcription	Right Ventricle	heart
28	chr1:173794800-173834000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:173795000-173802600	Weak transcription	Brain Germinal Matrix	brain
30	chr1:173795000-173803200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:173795000-173803800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr1:173795000-173806200	Weak transcription	Brain Hippocampus Middle	brain
33	chr1:173795000-173806400	Weak transcription	Fetal Lung	lung
34	chr1:173795000-173808600	Weak transcription	Colonic Mucosa	Colon
35	chr1:173795000-173826200	Weak transcription	Psoas Muscle	Psoas
36	chr1:173795000-173834600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:173795200-173802600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:173795200-173822400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr1:173795200-173824600	Weak transcription	Gastric	stomach
40	chr1:173795400-173817400	Weak transcription	Fetal Brain Male	brain
41	chr1:173795800-173814000	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr1:173796000-173818000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:173796200-173805800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr1:173796200-173812800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr1:173796200-173817800	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr1:173796400-173802600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:173796600-173806800	Weak transcription	Thymus	Thymus
48	chr1:173797000-173802600	Weak transcription	HepG2	liver
49	chr1:173797000-173803600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr1:173797000-173804200	Strong transcription	K562	blood

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