Variant report

Variant	rs3801016
Chromosome Location	chr7:5744107-5744108
allele	A/C
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:5631726..5635641-chr7:5742427..5748005,7	K562	blood:
2	chr7:5533966..5534935-chr7:5743841..5744794,3	K562	blood:
3	chr7:5568044..5571320-chr7:5743325..5746432,4	K562	blood:
4	chr7:5736035..5737796-chr7:5742971..5745754,2	K562	blood:
5	chr7:5631076..5635641-chr7:5742427..5745815,5	K562	blood:
6	chr7:5279622..5280486-chr7:5743802..5744352,2	K562	blood:
7	chr7:5533846..5534509-chr7:5743823..5744628,2	MCF-7	breast:
8	chr7:5600754..5602695-chr7:5743222..5745782,2	MCF-7	breast:
9	chr7:5563322..5565603-chr7:5742283..5744157,2	K562	blood:
10	chr7:5736261..5739455-chr7:5742456..5746657,4	MCF-7	breast:
11	chr7:5674219..5675152-chr7:5743782..5744684,2	MCF-7	breast:
12	chr7:5594344..5596606-chr7:5743291..5745974,2	K562	blood:
13	chr7:5740407..5742553-chr7:5742668..5744217,2	K562	blood:
14	chr7:5405392..5406278-chr7:5743821..5744759,2	K562	blood:
15	chr7:5742111..5744316-chr7:5749333..5751085,2	K562	blood:
16	chr7:5734531..5737530-chr7:5742995..5745148,2	K562	blood:
17	chr7:5603132..5603827-chr7:5743829..5744544,2	MCF-7	breast:
18	chr7:5717764..5718521-chr7:5743724..5744775,3	MCF-7	breast:
19	chr7:5542447..5545268-chr7:5743125..5745783,2	K562	blood:
20	chr7:5743795..5744628-chr7:5820920..5821459,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000011275	Chromatin interaction
ENSG00000075618	Chromatin interaction
ENSG00000075624	Chromatin interaction
ENSG00000272719	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10232762	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10233615	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10241310	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10259773	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10275238	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1035331	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11531468	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12531598	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1990836	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2009260	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2287593	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2287595	1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs2345938	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs3735289	0.94[ASN][1000 genomes]
rs3801012	0.88[JPT][hapmap]
rs3801019	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3823683	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4720640	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4720641	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4720642	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4724712	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs4724713	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4724718	0.82[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[YRI][hapmap];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61203027	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6463506	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6463507	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6944143	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6956960	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6958272	0.85[AMR][1000 genomes]
rs6959871	0.82[CEU][hapmap]
rs6960381	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[YRI][hapmap];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6960897	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7777831	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7796461	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7800691	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7803308	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7804319	0.82[CEU][hapmap]
rs852257	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852258	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852265	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852266	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852267	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852375	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs852376	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs852397	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852402	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852409	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs852410	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs852415	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.86[AFR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs852420	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs852421	0.83[EUR][1000 genomes]
rs852441	1.00[CEU][hapmap]
rs852453	1.00[CEU][hapmap]
rs852468	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs852489	1.00[CEU][hapmap]
rs852516	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs888582	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs888583	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9648578	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
5	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer 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	336 gene(s)	inside rSNPs	diseases
6	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
7	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
8	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription 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 miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
9	nsv530467	chr7:5617816-5815082	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
10	nsv1017612	chr7:5629728-5819144	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
11	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer 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	126 gene(s)	inside rSNPs	diseases
12	nsv887417	chr7:5667645-5760860	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 lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
13	nsv887418	chr7:5675305-5772551	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
14	nsv887419	chr7:5703669-5820383	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
15	nsv1028652	chr7:5706207-5769489	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
16	nsv830891	chr7:5726301-5895460	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5723400-5766400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:5732600-5747600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:5735800-5744200	Enhancers	Brain Angular Gyrus	brain
4	chr7:5735800-5744200	Enhancers	Brain Anterior Caudate	brain
5	chr7:5735800-5746000	Weak transcription	HUVEC	blood vessel
6	chr7:5737200-5748400	Weak transcription	Colonic Mucosa	Colon
7	chr7:5737400-5767200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:5737600-5774200	Strong transcription	Dnd41	blood
9	chr7:5738000-5748200	Weak transcription	Small Intestine	intestine
10	chr7:5739600-5769600	Strong transcription	Fetal Intestine Large	intestine
11	chr7:5740000-5760800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:5741200-5763600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr7:5741400-5744200	Enhancers	Brain Germinal Matrix	brain
14	chr7:5741400-5744800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
15	chr7:5741600-5744600	Enhancers	Brain Cingulate Gyrus	brain
16	chr7:5741600-5746000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr7:5741800-5747600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr7:5741800-5750200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr7:5742000-5748200	Weak transcription	Pancreas	Pancrea
20	chr7:5742000-5748400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr7:5742000-5750200	Weak transcription	Esophagus	oesophagus
22	chr7:5742000-5757200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:5742200-5745400	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr7:5742400-5744200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:5742400-5744200	Enhancers	Fetal Brain Male	brain
26	chr7:5742400-5744400	Genic enhancers	Fetal Stomach	stomach
27	chr7:5742400-5744400	Enhancers	HMEC	breast
28	chr7:5742400-5744600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:5742600-5744200	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr7:5742600-5744200	Enhancers	Fetal Kidney	kidney
31	chr7:5742600-5744600	Enhancers	Rectal Smooth Muscle	rectum
32	chr7:5742800-5744200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr7:5742800-5744200	Enhancers	Thymus	Thymus
34	chr7:5742800-5744600	Genic enhancers	HSMM	muscle
35	chr7:5742800-5744800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:5742800-5748600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:5743000-5744200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr7:5743000-5744200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:5743000-5744200	Enhancers	Primary B cells from peripheral blood	blood
40	chr7:5743000-5744200	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr7:5743000-5744200	Enhancers	Osteobl	bone
42	chr7:5743000-5744400	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr7:5743000-5744400	Enhancers	Fetal Brain Female	brain
44	chr7:5743000-5746000	Weak transcription	HepG2	liver
45	chr7:5743000-5748200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:5743000-5748400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr7:5743000-5748400	Weak transcription	Aorta	Aorta
48	chr7:5743200-5744200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr7:5743200-5744200	Enhancers	Muscle Satellite Cultured Cells	--
50	chr7:5743200-5744200	Enhancers	Liver	Liver

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