Variant report

Variant	rs10046499
Chromosome Location	chr7:6180064-6180065
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6178122..6181504-chr7:6183657..6185777,3	K562	blood:
2	chr7:6178122..6180837-chr7:6183657..6185777,2	K562	blood:
3	chr7:6177505..6181688-chr7:6185145..6188693,4	MCF-7	breast:

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10216107	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10224504	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs10225119	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10226743	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10228155	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.82[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs10228389	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10228430	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10229323	0.81[ASN][1000 genomes]
rs10240510	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs10241174	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10242394	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10244640	1.00[JPT][hapmap]
rs10245186	1.00[JPT][hapmap]
rs10246266	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10247585	1.00[CEU][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs10250285	0.94[ASN][1000 genomes]
rs10252947	1.00[JPT][hapmap]
rs10253501	1.00[JPT][hapmap]
rs10254689	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10255598	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10255662	1.00[JPT][hapmap]
rs10255914	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10255918	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10257181	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10257248	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10257654	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10257971	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10261217	1.00[JPT][hapmap]
rs10261466	0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10267982	1.00[JPT][hapmap]
rs10275021	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10279137	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10280585	0.87[ASW][hapmap];0.82[CEU][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[ASN][1000 genomes]
rs10282278	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11768047	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11768749	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs11770730	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12667323	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12667392	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13437890	1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17136048	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.94[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28385378	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28575447	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs28589289	0.94[ASN][1000 genomes]
rs28758696	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28880007	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs34123833	0.94[ASN][1000 genomes]
rs60892137	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61750868	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61753115	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61753118	0.94[ASN][1000 genomes]
rs6463540	1.00[JPT][hapmap]
rs6463541	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs6463544	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs6942707	1.00[JPT][hapmap]
rs6944071	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6946205	1.00[JPT][hapmap]
rs6949823	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6955065	1.00[JPT][hapmap]
rs6960965	1.00[JPT][hapmap]
rs6962767	1.00[JPT][hapmap]
rs6969814	1.00[JPT][hapmap]
rs6969863	1.00[JPT][hapmap]
rs7777433	1.00[JPT][hapmap]
rs7780269	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs7783018	1.00[JPT][hapmap]
rs7784130	1.00[MEX][hapmap]
rs7786473	1.00[MEX][hapmap]
rs7791225	1.00[JPT][hapmap]
rs7796322	0.94[ASN][1000 genomes]
rs7800777	1.00[JPT][hapmap]
rs7807841	1.00[JPT][hapmap]
rs958329	1.00[JPT][hapmap]
rs9655493	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
6	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
7	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
8	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
9	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
10	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
11	nsv1021037	chr7:6070792-6426966	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
12	nsv538713	chr7:6070792-6426966	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
13	esv1795897	chr7:6170251-6212118	Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
14	nsv522155	chr7:6172654-6212656	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
15	nsv530989	chr7:6176729-6438197	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6145600-6186000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:6145600-6186400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:6146800-6218200	Weak transcription	Stomach Mucosa	stomach
4	chr7:6157400-6188400	Weak transcription	Psoas Muscle	Psoas
5	chr7:6157400-6189400	Weak transcription	Fetal Heart	heart
6	chr7:6160600-6201800	Strong transcription	Fetal Thymus	thymus
7	chr7:6161400-6180200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr7:6161400-6183800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr7:6161400-6199600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:6161400-6202200	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr7:6161600-6185200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr7:6161600-6192000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:6161800-6183800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr7:6163000-6185000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr7:6164000-6192400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:6164200-6199400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr7:6167400-6205600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr7:6168200-6182600	Weak transcription	HUVEC	blood vessel
19	chr7:6168800-6184800	Weak transcription	Small Intestine	intestine
20	chr7:6170000-6183400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr7:6170600-6182400	Weak transcription	K562	blood
22	chr7:6172000-6183200	Strong transcription	Fetal Intestine Small	intestine
23	chr7:6172800-6202600	Strong transcription	Dnd41	blood
24	chr7:6173200-6192600	Strong transcription	Fetal Muscle Trunk	muscle
25	chr7:6173200-6204800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:6173400-6183200	Strong transcription	Fetal Stomach	stomach
27	chr7:6173800-6192200	Strong transcription	Primary B cells from cord blood	blood
28	chr7:6173800-6205000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:6174000-6193400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr7:6174200-6180400	Strong transcription	Primary T cells from cord blood	blood
31	chr7:6174200-6204800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr7:6174400-6190800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr7:6174400-6200600	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr7:6174600-6202200	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr7:6174800-6200000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:6175000-6180200	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr7:6175200-6180400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr7:6175200-6199200	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr7:6175400-6180600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr7:6175400-6193200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:6175400-6204200	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr7:6175600-6198800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:6175800-6193600	Strong transcription	Fetal Intestine Large	intestine
44	chr7:6176000-6198200	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr7:6176600-6180200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:6176600-6180200	Strong transcription	A549	lung
47	chr7:6176600-6186200	Strong transcription	Duodenum Mucosa	Duodenum
48	chr7:6176800-6180200	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr7:6177000-6199400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:6177600-6180200	Strong transcription	Brain Cingulate Gyrus	brain

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