Variant report

Variant	rs715047
Chromosome Location	chr2:153502728-153502729
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:153031090..153033664-chr2:153502377..153505718,4	MCF-7	breast:
2	chr2:153500933..153503507-chr2:153514364..153517064,2	K562	blood:
3	chr2:153501231..153504179-chr2:153533212..153536871,4	K562	blood:
4	chr2:153495557..153498820-chr2:153502340..153505191,3	K562	blood:
5	chr2:153031511..153033349-chr2:153501421..153503057,2	MCF-7	breast:
6	chr2:153498882..153503478-chr2:153504081..153508204,8	K562	blood:

Variant related genes	Relation type
ENSG00000115145	Chromatin interaction
ENSG00000196504	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10172024	0.86[ASN][1000 genomes]
rs10181485	0.88[ASN][1000 genomes]
rs10200667	0.86[ASN][1000 genomes]
rs1036526	0.90[ASN][1000 genomes]
rs1065266	0.90[ASN][1000 genomes]
rs10931229	0.88[ASN][1000 genomes]
rs11544718	0.90[ASN][1000 genomes]
rs11899051	0.80[ASN][1000 genomes]
rs12477881	0.82[ASN][1000 genomes]
rs12621561	0.81[ASN][1000 genomes]
rs12997814	0.88[ASN][1000 genomes]
rs13005368	0.86[ASN][1000 genomes]
rs13010731	0.85[ASN][1000 genomes]
rs13017428	0.86[ASN][1000 genomes]
rs13031469	0.92[ASN][1000 genomes]
rs13419068	0.81[ASN][1000 genomes]
rs1370498	0.90[ASN][1000 genomes]
rs1437678	0.90[ASN][1000 genomes]
rs16831548	0.90[ASN][1000 genomes]
rs17328734	0.86[ASN][1000 genomes]
rs1992146	0.88[ASN][1000 genomes]
rs2118377	0.90[ASN][1000 genomes]
rs2304559	0.90[ASN][1000 genomes]
rs2346534	0.90[ASN][1000 genomes]
rs2346539	0.81[ASN][1000 genomes]
rs2346540	0.81[ASN][1000 genomes]
rs2346541	0.86[ASN][1000 genomes]
rs2346542	0.86[ASN][1000 genomes]
rs2346550	0.85[ASN][1000 genomes]
rs3171980	0.90[ASN][1000 genomes]
rs34668102	0.90[ASN][1000 genomes]
rs3748939	0.86[ASN][1000 genomes]
rs3762503	0.81[ASN][1000 genomes]
rs3762506	0.90[ASN][1000 genomes]
rs3762507	0.90[ASN][1000 genomes]
rs3811566	0.86[ASN][1000 genomes]
rs4664121	0.81[ASN][1000 genomes]
rs4664122	0.88[ASN][1000 genomes]
rs4664601	0.81[ASN][1000 genomes]
rs4664602	0.84[ASN][1000 genomes]
rs4664604	0.86[ASN][1000 genomes]
rs4664607	0.86[ASN][1000 genomes]
rs6434161	0.86[ASN][1000 genomes]
rs6434162	0.86[ASN][1000 genomes]
rs6713779	0.90[ASN][1000 genomes]
rs6727279	0.80[ASN][1000 genomes]
rs6746079	0.81[ASN][1000 genomes]
rs6746321	0.88[ASN][1000 genomes]
rs72871191	0.81[ASN][1000 genomes]
rs72872607	0.81[ASN][1000 genomes]
rs7556673	0.81[ASN][1000 genomes]
rs7559219	0.86[ASN][1000 genomes]
rs7560393	0.86[ASN][1000 genomes]
rs7570759	0.86[ASN][1000 genomes]
rs7576152	0.83[ASN][1000 genomes]
rs7576847	0.83[ASN][1000 genomes]
rs7582253	0.81[ASN][1000 genomes]
rs7592669	0.86[ASN][1000 genomes]
rs7593347	0.88[ASN][1000 genomes]
rs7605709	0.86[ASN][1000 genomes]
rs9288121	0.92[ASN][1000 genomes]
rs9288125	0.90[ASN][1000 genomes]
rs9288127	0.88[ASN][1000 genomes]
rs9646744	0.86[ASN][1000 genomes]
rs9789505	0.81[ASN][1000 genomes]
rs9789521	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv834421	chr2:153470109-153664235	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv3693437	chr2:153484685-153505003	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153457200-153505000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:153463800-153502800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:153464000-153502800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:153467200-153504000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:153469000-153509800	Weak transcription	Small Intestine	intestine
6	chr2:153471000-153507000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr2:153472000-153522000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:153474400-153505000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr2:153481400-153503000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:153484400-153503000	Strong transcription	Fetal Muscle Trunk	muscle
11	chr2:153484400-153504200	Strong transcription	Fetal Muscle Leg	muscle
12	chr2:153486200-153503000	Strong transcription	Fetal Stomach	stomach
13	chr2:153487600-153505000	Weak transcription	Fetal Thymus	thymus
14	chr2:153488600-153503200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr2:153491600-153502800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:153491600-153504000	Strong transcription	HepG2	liver
17	chr2:153492000-153508200	Weak transcription	Primary B cells from cord blood	blood
18	chr2:153492200-153502800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:153492400-153506200	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr2:153492400-153513400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:153492800-153502800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:153492800-153502800	Strong transcription	Fetal Brain Female	brain
23	chr2:153492800-153503400	Strong transcription	Fetal Intestine Large	intestine
24	chr2:153492800-153504400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr2:153492800-153504600	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr2:153493000-153502800	Strong transcription	Adipose Nuclei	Adipose
27	chr2:153493000-153503000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:153493000-153503200	Strong transcription	Brain Substantia Nigra	brain
29	chr2:153493200-153503200	Strong transcription	Brain Cingulate Gyrus	brain
30	chr2:153493400-153503000	Strong transcription	Brain Anterior Caudate	brain
31	chr2:153494200-153503000	Strong transcription	Left Ventricle	heart
32	chr2:153494600-153503400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr2:153495000-153506400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:153495400-153517400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:153496000-153506400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr2:153497000-153531800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr2:153497200-153504200	Weak transcription	Pancreas	Pancrea
38	chr2:153497200-153514000	Weak transcription	Colonic Mucosa	Colon
39	chr2:153497200-153521200	Weak transcription	Esophagus	oesophagus
40	chr2:153497400-153503000	Weak transcription	Colon Smooth Muscle	Colon
41	chr2:153497400-153516200	Weak transcription	Spleen	Spleen
42	chr2:153497800-153503800	Weak transcription	Liver	Liver
43	chr2:153497800-153504200	Weak transcription	Gastric	stomach
44	chr2:153497800-153504400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:153498000-153503200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr2:153498000-153504200	Weak transcription	Right Ventricle	heart
47	chr2:153498200-153502800	Weak transcription	NH-A	brain
48	chr2:153498200-153503400	Weak transcription	HSMMtube	muscle
49	chr2:153498200-153507000	Weak transcription	HUVEC	blood vessel
50	chr2:153498400-153503400	Weak transcription	Fetal Brain Male	brain

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