Variant report

Variant	rs12705296
Chromosome Location	chr7:104646178-104646179
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:59485726..59487410-chr7:104646089..104648934,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SRPK2-1	chr7:104637584-104654636	NONHSAT122594

Variant related genes	Relation type
ENSG00000121068	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1011468	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10228174	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10247691	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10252714	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10263499	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1029596	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11978288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11981882	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12534212	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2097942	0.90[EUR][1000 genomes]
rs2106500	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2299298	0.88[EUR][1000 genomes]
rs4602821	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4727618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4730066	0.86[ASN][1000 genomes]
rs6466035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67665940	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6947388	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6950894	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6963395	0.90[EUR][1000 genomes]
rs6976394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6980244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7784126	0.89[EUR][1000 genomes]
rs888086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9918494	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[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	nsv1029283	chr7:104571741-104729168	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	132 gene(s)	inside rSNPs	diseases
2	nsv888927	chr7:104614664-104781644	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
3	esv2829879	chr7:104618318-104652671	Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv608068	chr7:104622402-104757483	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
5	nsv437561	chr7:104626690-104647571	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104625000-104647400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:104633600-104650400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr7:104634000-104647200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr7:104636400-104649400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr7:104638200-104646800	Enhancers	Stomach Mucosa	stomach
6	chr7:104639400-104649800	Genic enhancers	Fetal Intestine Small	intestine
7	chr7:104639800-104648800	Enhancers	Colon Smooth Muscle	Colon
8	chr7:104640000-104646200	Enhancers	Liver	Liver
9	chr7:104640200-104648600	Genic enhancers	Dnd41	blood
10	chr7:104641800-104649000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr7:104641800-104651800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:104642000-104650200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr7:104642000-104650600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:104642200-104650000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr7:104642400-104651000	Weak transcription	Esophagus	oesophagus
16	chr7:104642400-104652200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:104643400-104648200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:104643600-104646400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr7:104643600-104647200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:104643600-104650800	Genic enhancers	Primary B cells from peripheral blood	blood
21	chr7:104644000-104646800	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr7:104644000-104649400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr7:104644200-104647000	Strong transcription	Fetal Thymus	thymus
24	chr7:104644400-104648600	Weak transcription	Aorta	Aorta
25	chr7:104644400-104649000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr7:104644600-104646800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr7:104644600-104646800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr7:104644600-104646800	Weak transcription	Right Ventricle	heart
29	chr7:104644600-104646800	Weak transcription	Thymus	Thymus
30	chr7:104644600-104647800	Weak transcription	Gastric	stomach
31	chr7:104644600-104648600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:104644600-104649200	Genic enhancers	NHEK	skin
33	chr7:104644600-104650200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr7:104644800-104646800	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr7:104644800-104646800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr7:104644800-104646800	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr7:104644800-104646800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr7:104644800-104646800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:104644800-104646800	Enhancers	Duodenum Mucosa	Duodenum
40	chr7:104644800-104646800	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr7:104644800-104647000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr7:104644800-104647600	Enhancers	Primary T cells from cord blood	blood
43	chr7:104644800-104650200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr7:104644800-104650400	Weak transcription	HSMMtube	muscle
45	chr7:104645000-104646200	Enhancers	K562	blood
46	chr7:104645000-104646600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr7:104645000-104646800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:104645000-104646800	Enhancers	Primary T cells fromperipheralblood	blood
49	chr7:104645000-104646800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr7:104645000-104646800	Weak transcription	Fetal Kidney	kidney

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