Variant report

Variant	rs66741152
Chromosome Location	chr2:111418368-111418369
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:111417412..111419778-chr2:111421877..111423912,2	MCF-7	breast:
2	chr2:111417148..111420155-chr2:111422664..111426427,4	K562	blood:
3	chr2:111410330..111414018-chr2:111416096..111419092,4	K562	blood:
4	chr2:111412529..111421605-chr2:111423929..111428761,11	K562	blood:

Variant related genes	Relation type
ENSG00000169679	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10175974	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10193862	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10203271	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10204694	1.00[EUR][1000 genomes]
rs11897518	1.00[EUR][1000 genomes]
rs11900983	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11903773	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13386878	1.00[EUR][1000 genomes]
rs13393728	1.00[EUR][1000 genomes]
rs13398617	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13410685	1.00[EUR][1000 genomes]
rs13415981	1.00[EUR][1000 genomes]
rs13419537	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13430683	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28502311	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58093108	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59372758	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66924117	1.00[EUR][1000 genomes]
rs6721997	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67862961	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72828819	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72828821	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72828826	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72828829	1.00[EUR][1000 genomes]
rs72828830	1.00[EUR][1000 genomes]
rs7581640	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7594746	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7609252	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830158	chr2:110727715-111419426	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1008581	chr2:110826262-111487021	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv2752453	chr2:110834561-111426338	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv2751813	chr2:110834561-111447446	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv1009823	chr2:110841714-111425270	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv535877	chr2:110841714-111425270	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	esv994221	chr2:110847086-111453103	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv436279	chr2:110850697-111453448	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv435724	chr2:110851622-111453839	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
10	esv3502444	chr2:110852415-111453435	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	esv3460817	chr2:110852627-111453192	Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
12	esv3502445	chr2:110852643-111453216	Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	esv3460819	chr2:110852686-111453177	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer 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 miRNA target site	47 gene(s)	inside rSNPs	diseases
14	esv3460820	chr2:110852686-111453177	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	esv3502446	chr2:110852704-111453148	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
16	esv3502447	chr2:110852704-111453148	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
17	nsv874836	chr2:110983050-111463391	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
18	nsv874837	chr2:111367727-111463391	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
19	nsv582696	chr2:111367727-111469138	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
20	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
21	nsv582697	chr2:111386233-111451816	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer 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	3 gene(s)	inside rSNPs	diseases
22	nsv582698	chr2:111387676-111452539	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
23	nsv874839	chr2:111400934-111868010	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
24	nsv1008758	chr2:111415136-111626467	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
25	nsv535890	chr2:111415136-111626467	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking 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	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111390800-111435200	Weak transcription	Gastric	stomach
2	chr2:111391000-111435200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:111392000-111422400	Strong transcription	Dnd41	blood
4	chr2:111392000-111433800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:111392200-111426600	Strong transcription	Fetal Thymus	thymus
6	chr2:111392200-111432200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:111393000-111432200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:111393400-111434600	Weak transcription	Fetal Kidney	kidney
9	chr2:111394000-111432600	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:111394400-111420000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:111394400-111431200	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr2:111394400-111432200	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr2:111394400-111432200	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr2:111394400-111432400	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:111395200-111432400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr2:111395400-111419800	Strong transcription	HUVEC	blood vessel
17	chr2:111396200-111419800	Strong transcription	A549	lung
18	chr2:111397800-111434600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr2:111398400-111419000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr2:111399400-111418800	Weak transcription	Primary T cells from cord blood	blood
21	chr2:111403000-111432200	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr2:111403000-111432200	Strong transcription	K562	blood
23	chr2:111403000-111432600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr2:111403400-111428400	Strong transcription	GM12878-XiMat	blood
25	chr2:111403800-111420000	Strong transcription	Primary hematopoietic stem cells	blood
26	chr2:111404600-111432000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:111405000-111432200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr2:111405200-111432400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:111405400-111420400	Strong transcription	H9 Cell Line	embryonic stem cell
30	chr2:111405400-111427400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:111405600-111419600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:111405600-111432200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:111405800-111431200	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr2:111405800-111435200	Weak transcription	Esophagus	oesophagus
35	chr2:111406600-111432400	Weak transcription	Ovary	ovary
36	chr2:111407200-111421400	Strong transcription	Thymus	Thymus
37	chr2:111407800-111420200	Strong transcription	Fetal Muscle Trunk	muscle
38	chr2:111407800-111421800	Strong transcription	HepG2	liver
39	chr2:111407800-111432200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:111408000-111419600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
41	chr2:111408200-111419600	Strong transcription	Hela-S3	cervix
42	chr2:111409600-111422000	Weak transcription	Fetal Brain Male	brain
43	chr2:111409800-111420200	Strong transcription	NHEK	skin
44	chr2:111410200-111429600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr2:111410400-111423600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr2:111411000-111432200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr2:111411200-111421200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:111413800-111434000	Weak transcription	Brain Germinal Matrix	brain
49	chr2:111414400-111427200	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr2:111415000-111420800	Strong transcription	Fetal Stomach	stomach

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