Variant report

Variant	rs7777433
Chromosome Location	chr7:6300431-6300432
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6297633..6303584-chr7:6308773..6313501,5	K562	blood:
2	chr7:6295150..6302020-chr7:6308719..6313384,10	MCF-7	breast:
3	chr7:6248788..6250767-chr7:6299120..6301643,2	MCF-7	breast:
4	chr7:6298757..6301475-chr7:6305303..6307556,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000008256	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10046499	1.00[JPT][hapmap]
rs10224504	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10225119	1.00[JPT][hapmap]
rs10240510	1.00[JPT][hapmap]
rs10241174	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10244640	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10245186	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10247585	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10252947	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10253501	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10255662	1.00[JPT][hapmap]
rs10255914	1.00[JPT][hapmap]
rs10261217	1.00[JPT][hapmap]
rs10263878	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10267982	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10268916	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[TSI][hapmap]
rs10270609	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10271600	0.96[ASN][1000 genomes]
rs10275021	1.00[JPT][hapmap]
rs10279137	1.00[JPT][hapmap]
rs10280585	1.00[JPT][hapmap]
rs11768047	1.00[JPT][hapmap]
rs11768749	1.00[JPT][hapmap]
rs11976961	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs12667392	1.00[JPT][hapmap]
rs13237896	0.89[EUR][1000 genomes]
rs13437890	1.00[JPT][hapmap]
rs17136048	1.00[JPT][hapmap]
rs34073302	0.92[EUR][1000 genomes]
rs34312608	0.81[EUR][1000 genomes]
rs34904930	0.92[EUR][1000 genomes]
rs34939060	0.84[EUR][1000 genomes]
rs35257722	0.82[EUR][1000 genomes]
rs35372475	0.92[EUR][1000 genomes]
rs35402521	0.82[EUR][1000 genomes]
rs35868999	0.82[EUR][1000 genomes]
rs35882223	0.82[EUR][1000 genomes]
rs35934233	0.92[EUR][1000 genomes]
rs6463535	0.87[EUR][1000 genomes]
rs6463540	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6463541	1.00[JPT][hapmap]
rs6463544	1.00[JPT][hapmap]
rs6942707	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6944071	1.00[JPT][hapmap]
rs6946205	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6949823	1.00[JPT][hapmap]
rs6955065	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6960965	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6961095	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6962767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap];0.81[YRI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6969814	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6969863	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs71531366	0.82[EUR][1000 genomes]
rs71531367	0.82[EUR][1000 genomes]
rs71531368	0.82[EUR][1000 genomes]
rs71531370	0.82[EUR][1000 genomes]
rs71531372	0.92[EUR][1000 genomes]
rs71531373	0.89[EUR][1000 genomes]
rs71549618	0.92[EUR][1000 genomes]
rs7780269	1.00[JPT][hapmap]
rs7780702	0.93[EUR][1000 genomes]
rs7783018	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7783827	0.93[EUR][1000 genomes]
rs7791225	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap];0.81[YRI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7800777	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7807841	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs886675	0.90[YRI][hapmap]
rs958329	1.00[CHB][hapmap];1.00[JPT][hapmap]

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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	nsv482829	chr7:6231809-6407606	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv1032987	chr7:6246313-6373054	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv538714	chr7:6246313-6373054	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
15	nsv497874	chr7:6296768-6614902	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7777433	CYTH3	cis	lymphoblastoid	seeQTL

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6288200-6310400	Weak transcription	Brain Angular Gyrus	brain
2	chr7:6288400-6306600	Weak transcription	Esophagus	oesophagus
3	chr7:6293000-6306400	Weak transcription	NHEK	skin
4	chr7:6293400-6306600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:6294200-6303200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr7:6294400-6300600	Enhancers	A549	lung
7	chr7:6294400-6301200	Enhancers	Adipose Nuclei	Adipose
8	chr7:6296000-6300800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr7:6296600-6303600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:6296800-6302600	Enhancers	NHLF	lung
11	chr7:6296800-6308400	Weak transcription	HMEC	breast
12	chr7:6297400-6301800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:6297600-6300600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:6297600-6301000	Weak transcription	Colonic Mucosa	Colon
15	chr7:6297600-6305400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:6298200-6302200	Weak transcription	Fetal Thymus	thymus
17	chr7:6298200-6306600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:6298400-6302000	Weak transcription	Small Intestine	intestine
19	chr7:6298400-6308600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr7:6299000-6300600	Enhancers	GM12878-XiMat	blood
21	chr7:6299000-6301400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr7:6299000-6301800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr7:6299000-6301800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr7:6299000-6302400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr7:6299000-6310400	Weak transcription	Primary B cells from cord blood	blood
26	chr7:6299200-6301800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr7:6299200-6301800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:6299200-6302000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr7:6299200-6302000	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr7:6299200-6310600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr7:6299600-6301000	Enhancers	Stomach Mucosa	stomach
32	chr7:6299600-6301200	Enhancers	Fetal Muscle Trunk	muscle
33	chr7:6299600-6303400	Enhancers	Fetal Muscle Leg	muscle
34	chr7:6299800-6300600	Enhancers	Fetal Kidney	kidney
35	chr7:6299800-6301000	Enhancers	Fetal Lung	lung
36	chr7:6299800-6301000	Enhancers	NH-A	brain
37	chr7:6299800-6301200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:6299800-6302400	Enhancers	Fetal Stomach	stomach
39	chr7:6299800-6303400	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr7:6300000-6300600	Enhancers	H1 Cell Line	embryonic stem cell
41	chr7:6300000-6300600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr7:6300000-6300600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr7:6300000-6300600	Enhancers	Duodenum Mucosa	Duodenum
44	chr7:6300000-6300600	Enhancers	Right Ventricle	heart
45	chr7:6300000-6300600	Flanking Active TSS	NHDF-Ad	bronchial
46	chr7:6300000-6300800	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr7:6300000-6301000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:6300000-6301000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:6300000-6301000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr7:6300000-6301000	Enhancers	Brain Hippocampus Middle	brain

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