Variant report

Variant	rs34558707
Chromosome Location	chr7:104631530-104631531
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:104627274..104629727-chr7:104630896..104634327,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SRPK2-1	chr7:104622194-104631612	NONHSAT122589

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs1013016	0.88[AMR][1000 genomes]
rs1019040	0.85[AMR][1000 genomes]
rs10224526	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10231782	0.87[AMR][1000 genomes]
rs10231975	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10241374	0.81[AMR][1000 genomes]
rs10242713	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10244764	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10245589	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10245676	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10245796	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10249746	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10249965	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10253962	0.82[AMR][1000 genomes]
rs10260346	0.90[AMR][1000 genomes]
rs10261472	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10261573	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10264273	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10268866	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10274607	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10276583	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10279486	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10279602	0.81[EUR][1000 genomes]
rs10280009	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10280752	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10808139	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10808140	0.88[AMR][1000 genomes]
rs10953464	0.92[AMR][1000 genomes]
rs10953466	0.81[AMR][1000 genomes]
rs10953467	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11971732	0.93[AMR][1000 genomes]
rs11973516	0.87[AMR][1000 genomes]
rs11976329	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11981399	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12531424	0.96[AMR][1000 genomes]
rs12532062	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12532456	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12534140	0.90[AMR][1000 genomes]
rs12540007	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12667625	0.80[AMR][1000 genomes]
rs12671368	0.90[AMR][1000 genomes]
rs12705297	0.91[AMR][1000 genomes]
rs12705299	0.80[AMR][1000 genomes]
rs13230660	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2011258	0.95[AMR][1000 genomes]
rs2058711	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2216107	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2237602	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2237604	0.80[AMR][1000 genomes]
rs2237605	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2240453	0.90[AMR][1000 genomes]
rs2240454	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2240455	0.86[AMR][1000 genomes]
rs2240457	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2285532	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2299299	0.80[AMR][1000 genomes]
rs28434158	0.80[AMR][1000 genomes]
rs28489493	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2891761	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3173872	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3213676	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3213741	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34202980	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35780942	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3735377	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4730065	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4730067	0.93[AMR][1000 genomes]
rs4730068	0.87[AMR][1000 genomes]
rs4730069	0.90[AMR][1000 genomes]
rs67739707	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6952534	0.90[AMR][1000 genomes]
rs6972229	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs740297	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs740298	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs740300	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7785197	0.90[AMR][1000 genomes]
rs7800233	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7805792	0.90[AMR][1000 genomes]
rs7810119	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7811349	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs875567	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs875568	0.93[AMR][1000 genomes]
rs916704	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs960437	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9641340	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9641341	0.86[AMR][1000 genomes]
rs999895	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv526422	chr7:104618318-104632980	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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	chr7:104625000-104633600	Weak transcription	Aorta	Aorta
2	chr7:104625000-104641200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:104625000-104647400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:104625200-104643800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:104625400-104633200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:104625400-104643000	Weak transcription	Fetal Brain Female	brain
7	chr7:104625600-104636400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:104625800-104641200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:104626200-104636200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:104626200-104641600	Weak transcription	Brain Germinal Matrix	brain
11	chr7:104626400-104639600	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr7:104627000-104632200	Genic enhancers	Fetal Intestine Small	intestine
13	chr7:104627000-104634200	Weak transcription	Brain Angular Gyrus	brain
14	chr7:104627000-104641000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr7:104627200-104638400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr7:104627400-104631600	Weak transcription	K562	blood
17	chr7:104627400-104634000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr7:104627400-104634800	Weak transcription	Brain Substantia Nigra	brain
19	chr7:104627400-104643600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:104627800-104637600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:104628000-104631600	Enhancers	Stomach Mucosa	stomach
22	chr7:104628000-104632200	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr7:104628200-104632000	Genic enhancers	NHDF-Ad	bronchial
24	chr7:104628400-104632400	Strong transcription	Primary B cells from peripheral blood	blood
25	chr7:104628600-104633000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr7:104628600-104634000	Weak transcription	Brain Anterior Caudate	brain
27	chr7:104628600-104636400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr7:104628800-104633200	Strong transcription	Fetal Thymus	thymus
29	chr7:104629000-104632000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
30	chr7:104629200-104632800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr7:104629400-104632000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr7:104629400-104632000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:104629400-104632200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:104629400-104632400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
35	chr7:104629600-104631600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr7:104629600-104631600	Weak transcription	Brain Hippocampus Middle	brain
37	chr7:104629600-104631800	Strong transcription	Primary hematopoietic stem cells	blood
38	chr7:104629800-104632000	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr7:104629800-104634200	Weak transcription	HSMMtube	muscle
40	chr7:104629800-104640200	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr7:104629800-104641200	Weak transcription	Colonic Mucosa	Colon
42	chr7:104630000-104637800	Strong transcription	Dnd41	blood
43	chr7:104630200-104631800	Genic enhancers	NHEK	skin
44	chr7:104630200-104632400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:104630200-104633400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr7:104630200-104633400	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr7:104630200-104633800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr7:104630200-104641200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:104630400-104631800	Strong transcription	Hela-S3	cervix
50	chr7:104630400-104632200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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