Variant report

Variant	rs7780981
Chromosome Location	chr7:102451539-102451540
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	chr7:102449182..102452214-chr7:102453198..102455672,3	K562	blood:
2	chr7:102450714..102452892-chr7:102454122..102456841,2	K562	blood:

Variant related genes	Relation type
ENSG00000161040	Chromatin interaction

Extended variants
information (count: 124 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10228495	0.95[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs10241865	0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs10242028	0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs10257317	0.92[ASN][1000 genomes]
rs10257543	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs10271157	0.81[ASN][1000 genomes]
rs10271184	0.91[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs10273725	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.83[GIH][hapmap];0.90[JPT][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes]
rs10279449	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10487283	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs10499952	0.85[CEU][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap]
rs10953374	0.92[ASN][1000 genomes]
rs11514917	0.95[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap]
rs11970869	0.80[EUR][1000 genomes]
rs11972019	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs11972261	0.81[CHB][hapmap];0.90[CHD][hapmap]
rs11972644	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs11973870	0.83[EUR][1000 genomes]
rs11976237	0.81[CHB][hapmap];0.90[CHD][hapmap]
rs11978670	0.92[CEU][hapmap];0.83[GIH][hapmap];0.86[TSI][hapmap];0.80[EUR][1000 genomes]
rs11978768	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs11978799	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11981980	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11983456	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs11983521	1.00[CEU][hapmap];0.85[GIH][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs12537977	0.91[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap]
rs12538955	0.99[EUR][1000 genomes]
rs12540384	0.80[EUR][1000 genomes]
rs12666764	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs12667218	0.83[EUR][1000 genomes]
rs12668434	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12669668	1.00[CEU][hapmap];0.91[GIH][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs13233521	0.91[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap]
rs13242493	0.85[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.86[TSI][hapmap]
rs1541519	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1608651	0.86[CHB][hapmap];0.93[CHD][hapmap];0.83[JPT][hapmap]
rs17136090	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17136137	0.80[EUR][1000 genomes]
rs2009503	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs2159022	0.92[CEU][hapmap];0.83[GIH][hapmap];0.86[TSI][hapmap];0.80[EUR][1000 genomes]
rs2190673	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2411056	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2908412	1.00[CEU][hapmap]
rs3779029	0.83[EUR][1000 genomes]
rs41501847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4620204	0.91[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap]
rs4729860	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs56269620	0.88[ASN][1000 genomes]
rs56894117	0.83[EUR][1000 genomes]
rs56921864	0.80[EUR][1000 genomes]
rs57253646	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57350619	0.83[EUR][1000 genomes]
rs57545514	0.80[EUR][1000 genomes]
rs57776797	0.83[EUR][1000 genomes]
rs58191643	0.80[EUR][1000 genomes]
rs58814323	0.96[EUR][1000 genomes]
rs58919995	0.99[EUR][1000 genomes]
rs59278165	0.80[EUR][1000 genomes]
rs59544295	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59709436	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60524601	0.83[EUR][1000 genomes]
rs60599650	0.83[EUR][1000 genomes]
rs61679881	0.80[EUR][1000 genomes]
rs6465873	0.84[ASN][1000 genomes]
rs6465876	0.91[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs6465877	0.92[CEU][hapmap];0.83[GIH][hapmap];0.82[TSI][hapmap];0.80[EUR][1000 genomes]
rs6465878	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6465879	0.92[CEU][hapmap];0.83[GIH][hapmap];0.86[TSI][hapmap]
rs6465880	0.81[ASN][1000 genomes]
rs6465882	0.85[CEU][hapmap];0.86[TSI][hapmap]
rs6465885	0.91[MEX][hapmap];0.90[TSI][hapmap]
rs6942855	0.92[CEU][hapmap];0.83[GIH][hapmap];0.86[TSI][hapmap];0.80[EUR][1000 genomes]
rs6945369	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs6946773	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6947403	0.85[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.86[TSI][hapmap]
rs6949150	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs6949391	0.92[ASN][1000 genomes]
rs6951288	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs6953980	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6956781	0.92[CEU][hapmap];0.83[GIH][hapmap];0.86[TSI][hapmap];0.80[EUR][1000 genomes]
rs6957434	0.92[CEU][hapmap];0.81[GIH][hapmap];0.95[TSI][hapmap];0.80[EUR][1000 genomes]
rs6960428	0.89[CHB][hapmap];0.95[JPT][hapmap]
rs6967389	1.00[CEU][hapmap];0.83[GIH][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs6968713	0.85[CEU][hapmap]
rs6969054	0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs6975388	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6975451	0.92[CEU][hapmap];0.83[GIH][hapmap];0.86[TSI][hapmap];0.80[EUR][1000 genomes]
rs6976005	0.83[EUR][1000 genomes]
rs6977145	0.80[EUR][1000 genomes]
rs73406250	0.98[EUR][1000 genomes]
rs73406284	0.80[EUR][1000 genomes]
rs73406302	0.80[EUR][1000 genomes]
rs73408204	0.80[EUR][1000 genomes]
rs7778418	0.98[CHD][hapmap];0.90[JPT][hapmap]
rs7779145	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7779618	0.91[CEU][hapmap];0.80[EUR][1000 genomes]
rs7782908	0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs7789252	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs7794668	0.91[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs7796335	0.80[EUR][1000 genomes]
rs7800387	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs7800548	0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7804322	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs847646	1.00[CHB][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes]
rs847647	0.85[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.86[TSI][hapmap]
rs847648	0.91[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap]
rs847649	0.91[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap]
rs847652	0.85[CEU][hapmap];0.86[TSI][hapmap]
rs847656	0.85[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.86[TSI][hapmap];0.80[EUR][1000 genomes]
rs847658	0.85[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes]
rs865865	0.80[EUR][1000 genomes]
rs869332	0.86[CHB][hapmap];0.93[CHD][hapmap]
rs9690210	0.82[EUR][1000 genomes]
rs9718453	0.91[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv1025363	chr7:102072448-102471485	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv469620	chr7:102296392-102454063	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv482714	chr7:102296392-102454063	Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	esv2761100	chr7:102335787-102481978	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv470382	chr7:102375663-102538515	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv608057	chr7:102440184-102538515	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7780981	LRWD1	cis	cerebellum	SCAN

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102416400-102467600	Weak transcription	Brain Anterior Caudate	brain
2	chr7:102419600-102454200	Weak transcription	Osteobl	bone
3	chr7:102419600-102456000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr7:102419800-102454000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:102421600-102452000	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr7:102421600-102475600	Weak transcription	Fetal Thymus	thymus
7	chr7:102422000-102474800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr7:102422000-102476000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr7:102436000-102454000	Weak transcription	NH-A	brain
10	chr7:102437400-102452000	Weak transcription	HUVEC	blood vessel
11	chr7:102439000-102459600	Weak transcription	Brain Hippocampus Middle	brain
12	chr7:102439600-102467400	Weak transcription	Thymus	Thymus
13	chr7:102439800-102463800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr7:102443800-102459600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr7:102444400-102463200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:102445600-102467600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr7:102445600-102469200	Weak transcription	Fetal Brain Male	brain
18	chr7:102445800-102467400	Weak transcription	Lung	lung
19	chr7:102446200-102467400	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr7:102447000-102454000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:102447000-102454400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:102447000-102469400	Weak transcription	Brain Angular Gyrus	brain
23	chr7:102447200-102453800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:102447200-102454000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:102447200-102467400	Weak transcription	Primary B cells from cord blood	blood
26	chr7:102447200-102469400	Weak transcription	Fetal Brain Female	brain
27	chr7:102447400-102452000	Weak transcription	HepG2	liver
28	chr7:102447400-102454000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr7:102447400-102462600	Weak transcription	Fetal Intestine Large	intestine
30	chr7:102447400-102477200	Weak transcription	Psoas Muscle	Psoas
31	chr7:102447600-102452000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:102447600-102453600	Weak transcription	Fetal Kidney	kidney
33	chr7:102447800-102451800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr7:102447800-102459400	Weak transcription	Gastric	stomach
35	chr7:102447800-102459600	Weak transcription	Spleen	Spleen
36	chr7:102447800-102459800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr7:102447800-102467400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr7:102447800-102473000	Weak transcription	Placenta	Placenta
39	chr7:102448000-102469200	Weak transcription	Right Ventricle	heart
40	chr7:102448000-102479000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr7:102448200-102470800	Weak transcription	Small Intestine	intestine
42	chr7:102448400-102471800	Weak transcription	Primary B cells from peripheral blood	blood
43	chr7:102448800-102452200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr7:102448800-102454000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr7:102449400-102451600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:102449400-102452000	Weak transcription	Fetal Stomach	stomach
47	chr7:102449400-102453800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:102449400-102467400	Weak transcription	Left Ventricle	heart
49	chr7:102449400-102467600	Weak transcription	Fetal Muscle Leg	muscle
50	chr7:102449600-102452000	Weak transcription	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links