Variant report

Variant	rs6721923
Chromosome Location	chr2:96971233-96971234
allele	C/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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:96930148..96938607-chr2:96966008..96973188,21	MCF-7	breast:
2	chr2:96968224..96973301-chr2:96983171..96988936,6	MCF-7	breast:
3	chr2:96967785..96972096-chr2:96987875..96991841,5	K562	blood:
4	chr2:96969192..96974477-chr2:96999948..97003661,14	K562	blood:
5	chr2:96946287..96947910-chr2:96970325..96972157,2	MCF-7	breast:
6	chr2:96968671..96973165-chr2:96996066..97004511,14	MCF-7	breast:
7	chr2:96969674..96973937-chr2:96983543..96988332,6	MCF-7	breast:
8	chr2:96970768..96971654-chr8:23021112..23021940,2	Hela-S3	cervix:
9	chr2:96971195..96973076-chr2:96991103..96992730,2	MCF-7	breast:
10	chr2:96969876..96972169-chr2:97534530..97536512,2	MCF-7	breast:
11	chr2:96970875..96971397-chr21:35287706..35288455,2	HCT-116	colon:
12	chr2:96970144..96972526-chr2:96999842..97002907,4	MCF-7	breast:
13	chr2:96928652..96934635-chr2:96966746..96973769,11	K562	blood:
14	chr2:96925245..96927615-chr2:96969806..96971741,2	MCF-7	breast:
15	chr2:96970733..96972591-chr2:97173678..97175597,2	MCF-7	breast:
16	chr2:96971094..96971792-chr5:40834950..40835771,2	Hela-S3	cervix:
17	chr2:96930218..96933448-chr2:96968870..96972894,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145592	Chromatin interaction
ENSG00000198885	Chromatin interaction
ENSG00000168758	Chromatin interaction
ENSG00000230747	Chromatin interaction
ENSG00000237945	Chromatin interaction
ENSG00000173530	Chromatin interaction
ENSG00000241837	Chromatin interaction
ENSG00000144028	Chromatin interaction
ENSG00000144021	Chromatin interaction
ENSG00000121152	Chromatin interaction
ENSG00000135956	Chromatin interaction
ENSG00000163121	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs29000574	1.00[YRI][hapmap]
rs57966158	1.00[AFR][1000 genomes]
rs58224517	0.86[AFR][1000 genomes]
rs61225141	0.86[AFR][1000 genomes]
rs72937668	1.00[AFR][1000 genomes]
rs72937669	1.00[AFR][1000 genomes]
rs72937670	1.00[AFR][1000 genomes]
rs72937680	1.00[AFR][1000 genomes]
rs72937692	0.86[AFR][1000 genomes]
rs72939354	0.83[AFR][1000 genomes]
rs72939616	0.86[AFR][1000 genomes]
rs72939640	0.86[AFR][1000 genomes]
rs72947357	0.86[AFR][1000 genomes]
rs72947387	0.86[AFR][1000 genomes]
rs72947401	0.86[AFR][1000 genomes]
rs7609551	1.00[YRI][hapmap];1.00[AFR][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	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised 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	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh 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	162 gene(s)	inside rSNPs	diseases
7	nsv834305	chr2:96848898-97019476	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
8	nsv874679	chr2:96860971-97184160	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
9	nsv508155	chr2:96934695-97138302	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers 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 target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96970000-96972000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr2:96970200-96972000	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr2:96970200-96972400	Active TSS	H1 Cell Line	embryonic stem cell
4	chr2:96970200-96972600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr2:96970400-96972000	Active TSS	H9 Cell Line	embryonic stem cell
6	chr2:96970400-96972000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:96970400-96972000	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr2:96970400-96972200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:96970600-96971600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:96970600-96971600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:96970600-96971800	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr2:96970600-96971800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:96970600-96971800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:96970600-96971800	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr2:96970600-96971800	Active TSS	Brain Cingulate Gyrus	brain
16	chr2:96970600-96971800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:96970600-96971800	Active TSS	Esophagus	oesophagus
18	chr2:96970600-96971800	Active TSS	Fetal Intestine Large	intestine
19	chr2:96970600-96971800	Active TSS	Fetal Intestine Small	intestine
20	chr2:96970600-96971800	Active TSS	Fetal Stomach	stomach
21	chr2:96970600-96971800	Active TSS	Gastric	stomach
22	chr2:96970600-96971800	Active TSS	Left Ventricle	heart
23	chr2:96970600-96971800	Active TSS	Lung	lung
24	chr2:96970600-96971800	Active TSS	Pancreas	Pancrea
25	chr2:96970600-96971800	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr2:96970600-96971800	Active TSS	Right Ventricle	heart
27	chr2:96970600-96972000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:96970600-96972000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:96970600-96972000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:96970600-96972000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:96970600-96972000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:96970600-96972000	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr2:96970600-96972000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:96970600-96972000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr2:96970600-96972000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr2:96970600-96972000	Active TSS	Aorta	Aorta
37	chr2:96970600-96972000	Active TSS	Colonic Mucosa	Colon
38	chr2:96970600-96972000	Active TSS	Ovary	ovary
39	chr2:96970600-96972000	Active TSS	Psoas Muscle	Psoas
40	chr2:96970600-96972000	Active TSS	A549	lung
41	chr2:96970600-96972000	Bivalent/Poised TSS	HepG2	liver
42	chr2:96970600-96972000	Active TSS	K562	blood
43	chr2:96970600-96972200	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr2:96970600-96972200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr2:96970600-96972200	Active TSS	GM12878-XiMat	blood
46	chr2:96970600-96972400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:96970600-96972400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:96970800-96971400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr2:96970800-96971400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr2:96970800-96971400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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