Variant report

Variant	rs6730165
Chromosome Location	chr2:33493498-33493499
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33171933..33174048-chr2:33491328..33494220,2	MCF-7	breast:
2	chr2:33491437..33494514-chr2:33496533..33499773,3	K562	blood:

Variant related genes	Relation type
ENSG00000049323	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17012674	1.00[TSI][hapmap]
rs17012691	1.00[TSI][hapmap]
rs17012718	0.86[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17012763	0.84[ASW][hapmap];0.93[LWK][hapmap];0.93[MKK][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes]
rs17012773	0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17012805	0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17038524	0.85[YRI][hapmap]
rs56136117	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59830763	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59953160	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60912737	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61151459	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6706122	1.00[TSI][hapmap]
rs73925006	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73925010	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73925680	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73927064	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7584010	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998167	chr2:33074313-33541100	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535623	chr2:33074313-33541100	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
5	nsv873791	chr2:33489975-33586776	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33466400-33497400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:33466600-33500800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:33472000-33516600	Weak transcription	Psoas Muscle	Psoas
4	chr2:33487000-33509800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:33487800-33502400	Weak transcription	Brain Anterior Caudate	brain
6	chr2:33490000-33499400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:33490200-33493800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:33490600-33515600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:33491200-33495800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:33491400-33493600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:33491800-33502000	Weak transcription	Brain Angular Gyrus	brain
12	chr2:33491800-33504400	Weak transcription	Colonic Mucosa	Colon
13	chr2:33492000-33493600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr2:33492000-33494000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr2:33492000-33495800	Weak transcription	A549	lung
16	chr2:33492000-33515800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr2:33492200-33501000	Weak transcription	Placenta	Placenta
18	chr2:33492200-33516600	Weak transcription	Brain Hippocampus Middle	brain
19	chr2:33492200-33516600	Weak transcription	Brain Substantia Nigra	brain
20	chr2:33492400-33493600	Strong transcription	NH-A	brain
21	chr2:33492400-33493800	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:33492400-33494200	Enhancers	Fetal Heart	heart
23	chr2:33492400-33497200	Weak transcription	Right Ventricle	heart
24	chr2:33492400-33499400	Weak transcription	Liver	Liver
25	chr2:33492400-33499600	Weak transcription	Left Ventricle	heart
26	chr2:33492400-33500000	Weak transcription	Fetal Stomach	stomach
27	chr2:33492400-33500800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:33492400-33500800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:33492400-33500800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr2:33492400-33500800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:33492400-33500800	Weak transcription	Esophagus	oesophagus
32	chr2:33492400-33500800	Weak transcription	Pancreas	Pancrea
33	chr2:33492400-33501000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:33492400-33501800	Weak transcription	Lung	lung
35	chr2:33492400-33502000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr2:33492400-33502000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr2:33492400-33502000	Weak transcription	Spleen	Spleen
38	chr2:33492400-33547400	Weak transcription	Fetal Intestine Small	intestine
39	chr2:33492600-33493800	Enhancers	Stomach Smooth Muscle	stomach
40	chr2:33492600-33494000	Genic enhancers	Muscle Satellite Cultured Cells	--
41	chr2:33492600-33494000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:33492600-33494000	Enhancers	HUVEC	blood vessel
43	chr2:33492600-33494200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:33492600-33494600	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr2:33492600-33495400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:33492600-33499200	Weak transcription	NHLF	lung
47	chr2:33492600-33499800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:33492600-33499800	Weak transcription	Fetal Muscle Trunk	muscle
49	chr2:33492600-33500800	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr2:33492600-33502000	Weak transcription	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links