Variant report

Variant	rs7607633
Chromosome Location	chr2:46759427-46759428
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	chr2:46752290..46755099-chr2:46757572..46760294,2	K562	blood:
2	chr2:46753746..46755302-chr2:46757747..46759461,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1001745	1.00[CHB][hapmap];0.84[JPT][hapmap];0.96[ASN][1000 genomes]
rs12986653	0.82[YRI][hapmap]
rs12997164	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13002880	0.85[YRI][hapmap]
rs13007688	0.82[YRI][hapmap]
rs13008088	0.85[ASN][1000 genomes]
rs13008418	0.80[AFR][1000 genomes]
rs13008445	0.81[AFR][1000 genomes]
rs13011481	0.82[YRI][hapmap]
rs13013245	1.00[CHB][hapmap]
rs13020299	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13030579	0.85[YRI][hapmap]
rs1530621	0.82[YRI][hapmap]
rs17817004	0.81[AFR][1000 genomes]
rs2121698	0.82[YRI][hapmap]
rs34050156	0.91[ASN][1000 genomes]
rs34416415	0.96[ASN][1000 genomes]
rs35178974	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35870739	0.81[ASN][1000 genomes]
rs3768730	0.82[YRI][hapmap]
rs4142759	1.00[CHB][hapmap];0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs4952831	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4952833	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4952834	1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs4953372	0.82[YRI][hapmap]
rs4953387	0.82[YRI][hapmap]
rs4953388	0.82[YRI][hapmap]
rs4953390	0.82[YRI][hapmap]
rs61701220	0.80[AFR][1000 genomes]
rs62134736	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62134741	0.85[ASN][1000 genomes]
rs6544898	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs7557190	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs7607308	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs880671	1.00[YRI][hapmap];0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv34650	chr2:46605659-46818992	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv437435	chr2:46636967-46763587	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	esv34937	chr2:46651624-46818586	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv1009735	chr2:46724523-46913152	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs7607633	CRIPT	Cis_1M	lymphoblastoid	RTeQTL
rs7607633	ATP6V1E2	cis	multi-tissue	Pritchard
rs7607633	ATP6V1E2	cis	Heart Left Ventricle	GTEx
rs7607633	ATP6V1E2	cis	lung	GTEx
rs7607633	ATP6V1E2	Cis_1M	lymphoblastoid	RTeQTL
rs7607633	ATP6V1E2	cis	Muscle Skeletal	GTEx
rs7607633	ATP6V1E2	cis	Esophagus Mucosa	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46744800-46761800	Weak transcription	A549	lung
2	chr2:46746400-46762800	Weak transcription	Liver	Liver
3	chr2:46747800-46766800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:46748800-46766400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:46748800-46767800	Weak transcription	HSMM	muscle
6	chr2:46748800-46768400	Weak transcription	Ovary	ovary
7	chr2:46751400-46761200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr2:46752000-46762000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:46752000-46766000	Weak transcription	Brain Substantia Nigra	brain
10	chr2:46753000-46767800	Weak transcription	Placenta	Placenta
11	chr2:46753200-46761200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:46753600-46761200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr2:46753600-46761800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr2:46753600-46768000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:46755800-46761800	Weak transcription	Aorta	Aorta
16	chr2:46755800-46767800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:46756000-46766400	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:46756400-46761200	Weak transcription	Primary T cells from cord blood	blood
19	chr2:46756400-46762200	Weak transcription	Thymus	Thymus
20	chr2:46756400-46768200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr2:46756600-46762000	Weak transcription	Brain Anterior Caudate	brain
22	chr2:46756600-46767800	Weak transcription	Pancreas	Pancrea
23	chr2:46757000-46764200	Weak transcription	Left Ventricle	heart
24	chr2:46757200-46760000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:46757400-46762000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:46757800-46765200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:46758600-46761200	Weak transcription	Primary B cells from peripheral blood	blood
28	chr2:46759000-46761200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr2:46759200-46761600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:46759400-46762000	Weak transcription	Brain Inferior Temporal Lobe	brain

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