Variant report

Variant	rs6730083
Chromosome Location	chr2:73115997-73115998
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:73115327..73117439-chr2:73131780..73134430,2	MCF-7	breast:
2	chr2:73113851..73116141-chr2:73460063..73461895,2	K562	blood:
3	chr2:73114683..73117579-chr2:73294155..73296243,2	MCF-7	breast:
4	chr2:73114758..73117255-chr2:73338595..73340339,2	MCF-7	breast:
5	chr2:73114860..73117387-chr2:73297045..73298854,2	MCF-7	breast:
6	chr2:73114641..73116374-chr2:73460063..73462016,2	K562	blood:
7	chr2:73115414..73118028-chr2:73130339..73132901,2	K562	blood:

Variant related genes	Relation type
ENSG00000135617	Chromatin interaction
ENSG00000272702	Chromatin interaction
ENSG00000135631	Chromatin interaction
ENSG00000135624	Chromatin interaction
ENSG00000144040	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10211019	0.88[EUR][1000 genomes]
rs1027848	0.86[EUR][1000 genomes]
rs1032982	1.00[CHB][hapmap]
rs10496186	0.92[CEU][hapmap]
rs10865393	0.86[EUR][1000 genomes]
rs11126385	0.91[EUR][1000 genomes]
rs1150500	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1161265	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1161266	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1161267	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11676555	1.00[CHB][hapmap]
rs11679683	1.00[CHB][hapmap]
rs11894160	0.91[EUR][1000 genomes]
rs12474728	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12622275	0.86[EUR][1000 genomes]
rs12713775	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs12989141	0.91[EUR][1000 genomes]
rs12996406	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs13035731	0.88[EUR][1000 genomes]
rs1508061	1.00[CHB][hapmap]
rs1567230	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs17503444	1.00[CHB][hapmap]
rs1911690	1.00[CHB][hapmap]
rs1995734	0.92[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes]
rs2048170	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2048171	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs2135985	0.88[EUR][1000 genomes]
rs2420880	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2420881	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2420883	0.86[EUR][1000 genomes]
rs2421095	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4321391	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs4852298	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs4852891	1.00[CHB][hapmap]
rs4852893	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs4852902	0.88[EUR][1000 genomes]
rs6546781	1.00[CHB][hapmap]
rs6546782	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs6546783	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs6546786	0.87[EUR][1000 genomes]
rs6546788	0.88[EUR][1000 genomes]
rs6546789	0.88[EUR][1000 genomes]
rs6546790	0.88[EUR][1000 genomes]
rs6546791	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6546792	0.88[EUR][1000 genomes]
rs6739002	0.91[EUR][1000 genomes]
rs6750740	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6758431	0.86[EUR][1000 genomes]
rs6758542	0.86[EUR][1000 genomes]
rs7580268	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs7586787	0.91[EUR][1000 genomes]
rs7588400	1.00[CHB][hapmap]
rs7588602	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes]
rs7592155	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes]
rs925146	0.86[EUR][1000 genomes]
rs925147	0.86[EUR][1000 genomes]
rs925148	0.86[EUR][1000 genomes]
rs990569	0.91[CEU][hapmap];1.00[CHB][hapmap]

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	nsv532723	chr2:73088191-73219259	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv3377861	chr2:73113469-73116017	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73115000-73116000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:73115000-73116200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:73115200-73116000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
4	chr2:73115200-73116000	Flanking Active TSS	Colonic Mucosa	Colon
5	chr2:73115200-73116000	Flanking Active TSS	Duodenum Mucosa	Duodenum
6	chr2:73115200-73116000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
7	chr2:73115200-73116000	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr2:73115200-73116000	Flanking Bivalent TSS/Enh	HepG2	liver
9	chr2:73115200-73116200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr2:73115200-73116200	Enhancers	Small Intestine	intestine
11	chr2:73115200-73116400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:73115200-73116400	Enhancers	Fetal Heart	heart
13	chr2:73115200-73116400	Flanking Active TSS	Pancreas	Pancrea
14	chr2:73115200-73116400	Flanking Active TSS	Hela-S3	cervix
15	chr2:73115400-73116000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr2:73115400-73116000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr2:73115400-73116400	Enhancers	H9 Cell Line	embryonic stem cell
18	chr2:73115400-73116400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr2:73115400-73116400	Genic enhancers	Fetal Intestine Small	intestine
20	chr2:73115400-73116400	Enhancers	Ovary	ovary
21	chr2:73115400-73116400	Transcr. at gene 5' and 3'	A549	lung
22	chr2:73115400-73116600	Enhancers	Esophagus	oesophagus
23	chr2:73115400-73116600	Enhancers	Right Ventricle	heart
24	chr2:73115400-73116800	Enhancers	Lung	lung
25	chr2:73115400-73117000	Enhancers	Left Ventricle	heart
26	chr2:73115400-73117000	Enhancers	Right Atrium	heart
27	chr2:73115400-73117400	Enhancers	Fetal Intestine Large	intestine
28	chr2:73115400-73120600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr2:73115400-73121000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:73115400-73121000	Weak transcription	NH-A	brain
31	chr2:73115400-73121400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:73115400-73122800	Weak transcription	Aorta	Aorta
33	chr2:73115600-73116000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:73115600-73116000	Bivalent Enhancer	Primary B cells from cord blood	blood
35	chr2:73115600-73116000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:73115600-73116000	Enhancers	Brain Angular Gyrus	brain
37	chr2:73115600-73116000	Enhancers	Brain Cingulate Gyrus	brain
38	chr2:73115600-73116000	Weak transcription	Fetal Brain Male	brain
39	chr2:73115600-73116000	Enhancers	Psoas Muscle	Psoas
40	chr2:73115600-73116000	Enhancers	Stomach Mucosa	stomach
41	chr2:73115600-73116000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
42	chr2:73115600-73116200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:73115600-73116200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:73115600-73116200	Active TSS	GM12878-XiMat	blood
45	chr2:73115600-73116200	Enhancers	HUVEC	blood vessel
46	chr2:73115600-73116400	Enhancers	Brain Hippocampus Middle	brain
47	chr2:73115600-73116400	Genic enhancers	HMEC	breast
48	chr2:73115600-73116600	Enhancers	Spleen	Spleen
49	chr2:73115600-73116800	Weak transcription	NHEK	skin
50	chr2:73115600-73117000	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle

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