Variant report

Variant	rs1061196
Chromosome Location	chr8:104410928-104410929
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:104406510..104409237-chr8:104409737..104411848,2	MCF-7	breast:
2	chr8:104406121..104412447-chr8:104425150..104430479,11	MCF-7	breast:
3	chr8:104384672..104387548-chr8:104409163..104411650,2	K562	blood:
4	chr8:104402820..104405998-chr8:104409229..104410954,4	MCF-7	breast:
5	chr8:104409502..104412263-chr8:104415584..104417349,2	K562	blood:
6	chr8:104405652..104407349-chr8:104409170..104411312,2	MCF-7	breast:
7	chr8:104410815..104412876-chr8:104413002..104415731,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164934	Chromatin interaction
ENSG00000164933	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10089343	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs10090069	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10094939	1.00[CHB][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10096207	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10097121	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10101517	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10102413	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs10103739	1.00[ASN][1000 genomes]
rs10105195	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10105450	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10106795	0.83[ASN][1000 genomes]
rs10108112	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10109642	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10112317	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10112450	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10112941	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10112952	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10113160	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10113367	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10216774	0.95[AFR][1000 genomes]
rs1032471	1.00[CHB][hapmap]
rs11779349	0.83[ASN][1000 genomes]
rs11781628	1.00[CHB][hapmap]
rs11785583	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs11985002	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12707777	0.83[ASN][1000 genomes]
rs13255562	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13257958	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13258345	0.83[ASN][1000 genomes]
rs13263611	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs13266347	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13266642	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13273192	0.83[ASN][1000 genomes]
rs13278335	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13282967	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs1370007	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs17205821	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs17228538	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];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17802416	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17802518	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17804088	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17804149	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28437723	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28862349	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2948449	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs3104026	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs34208282	0.83[ASN][1000 genomes]
rs35225263	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35392014	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35500845	0.86[ASN][1000 genomes]
rs57237927	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6468866	0.83[ASN][1000 genomes]
rs6985718	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6989714	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6990501	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs71520811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71520812	1.00[ASN][1000 genomes]
rs72675443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72675444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72675445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7464317	0.83[ASN][1000 genomes]
rs7820626	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7839421	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7845210	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs827528	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs827537	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs827538	0.83[ASN][1000 genomes]
rs827546	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs951826	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs973242	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs981816	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];0.86[YRI][hapmap];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv1020476	chr8:104312212-104924482	Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv539704	chr8:104312212-104924482	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1016395	chr8:104327541-104473005	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1023048	chr8:104355188-104872701	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv539705	chr8:104355188-104872701	ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv1021345	chr8:104361854-104879684	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv1032085	chr8:104362187-104878345	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv1033477	chr8:104369940-104439632	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	nsv539706	chr8:104369940-104439632	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv1034183	chr8:104369940-104814008	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
12	nsv539707	chr8:104369940-104814008	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	nsv611832	chr8:104400808-104481735	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
14	esv2753239	chr8:104404824-104545824	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1061196	FZD6	cis	parietal	SCAN
rs1061196	SLC25A32	cis	parietal	SCAN
rs1061196	DCAF13	cis	cerebellum	SCAN
rs1061196	FZD6	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104384400-104412200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr8:104384600-104418600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:104385000-104415600	Weak transcription	Placenta	Placenta
4	chr8:104385600-104423600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:104385600-104424600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:104386000-104418600	Weak transcription	Aorta	Aorta
7	chr8:104386000-104425600	Weak transcription	HSMMtube	muscle
8	chr8:104388200-104412200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr8:104393200-104423600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr8:104394800-104421800	Weak transcription	Small Intestine	intestine
11	chr8:104397400-104412400	Weak transcription	Brain Hippocampus Middle	brain
12	chr8:104398600-104413000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr8:104399400-104412200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr8:104400000-104426000	Weak transcription	Stomach Mucosa	stomach
15	chr8:104400200-104425600	Weak transcription	Colonic Mucosa	Colon
16	chr8:104400600-104422400	Weak transcription	Lung	lung
17	chr8:104400800-104412200	Weak transcription	Fetal Lung	lung
18	chr8:104400800-104412400	Weak transcription	Fetal Muscle Leg	muscle
19	chr8:104400800-104418600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr8:104401000-104411800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr8:104401000-104412200	Weak transcription	Fetal Kidney	kidney
22	chr8:104401000-104413000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr8:104401000-104413000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:104401200-104412000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:104401400-104412200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr8:104401600-104426600	Weak transcription	Esophagus	oesophagus
27	chr8:104401800-104412400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr8:104402400-104415000	Weak transcription	Ovary	ovary
29	chr8:104402400-104415600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr8:104404200-104425400	Weak transcription	Brain Angular Gyrus	brain
31	chr8:104404200-104426600	Weak transcription	Pancreas	Pancrea
32	chr8:104404400-104425000	Weak transcription	Fetal Brain Female	brain
33	chr8:104404600-104423800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr8:104405600-104417200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr8:104405800-104426600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:104405800-104426600	Weak transcription	Gastric	stomach
37	chr8:104406200-104412200	Weak transcription	Colon Smooth Muscle	Colon
38	chr8:104406200-104412400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr8:104406200-104420000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:104406400-104412200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr8:104406600-104411800	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr8:104406800-104424800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:104407400-104425200	Weak transcription	Fetal Brain Male	brain
44	chr8:104407600-104411000	Strong transcription	Primary T cells from cord blood	blood
45	chr8:104407600-104417600	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr8:104407800-104412400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr8:104407800-104417800	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr8:104408200-104412400	Weak transcription	K562	blood
49	chr8:104408200-104418600	Weak transcription	Brain Substantia Nigra	brain
50	chr8:104408400-104412400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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