Variant report

Variant	rs7653312
Chromosome Location	chr3:194894133-194894134
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:194892527..194894676-chr3:195164792..195166496,2	K562	blood:
2	chr3:194881175..194883958-chr3:194892435..194894199,2	K562	blood:
3	chr3:194893170..194895708-chr3:194897276..194900351,5	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10433328	0.88[CHB][hapmap]
rs10933701	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1114507	0.81[CHB][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.81[TSI][hapmap]
rs12497203	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2410806	0.89[JPT][hapmap]
rs2410807	0.85[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.81[TSI][hapmap]
rs4677662	0.87[CEU][hapmap];0.88[CHB][hapmap];0.93[MEX][hapmap]
rs4677814	0.87[CEU][hapmap];0.88[CHB][hapmap];0.93[MEX][hapmap]
rs59834989	0.81[ASN][1000 genomes]
rs6767234	0.81[CHB][hapmap]
rs729820	0.81[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap]
rs7628775	0.87[CEU][hapmap];0.88[CHB][hapmap];0.87[MEX][hapmap]
rs7632126	0.87[CEU][hapmap]
rs7637593	0.87[CEU][hapmap];0.88[CHB][hapmap];0.87[MEX][hapmap]
rs903309	0.87[CEU][hapmap];0.88[CHB][hapmap];0.80[MEX][hapmap]
rs903311	0.87[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];0.84[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap]
rs9824084	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007697	chr3:194554814-195009930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv536873	chr3:194554814-195009930	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1009796	chr3:194737333-195124248	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1012592	chr3:194814446-194931562	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
5	nsv536875	chr3:194814446-194931562	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1001492	chr3:194814990-194935397	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
7	nsv461126	chr3:194817484-194961888	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
8	nsv592981	chr3:194817484-194961888	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
9	nsv878137	chr3:194822098-194900432	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
10	nsv461127	chr3:194833940-194934634	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
11	nsv592982	chr3:194833940-194934634	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
12	nsv1014826	chr3:194834615-195631793	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
13	nsv536876	chr3:194834615-195631793	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
14	nsv533904	chr3:194868329-195438728	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS 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	65 gene(s)	inside rSNPs	diseases
15	nsv1009120	chr3:194874494-194974672	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv1010168	chr3:194874494-195135790	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	nsv536877	chr3:194874494-195135790	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
18	nsv997956	chr3:194879534-195087539	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
19	nsv536878	chr3:194879534-195087539	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194862400-194897800	Weak transcription	Dnd41	blood
2	chr3:194881400-194906000	Weak transcription	Hela-S3	cervix
3	chr3:194881600-194903000	Weak transcription	HSMM	muscle
4	chr3:194882000-194904400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr3:194883400-194899200	Weak transcription	Brain Angular Gyrus	brain
6	chr3:194884200-194902400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr3:194884400-194901000	Weak transcription	Primary T cells from cord blood	blood
8	chr3:194884800-194908800	Weak transcription	Thymus	Thymus
9	chr3:194885200-194902400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr3:194885400-194906600	Weak transcription	Gastric	stomach
11	chr3:194885600-194900600	Weak transcription	Ovary	ovary
12	chr3:194886400-194900400	Weak transcription	Primary B cells from cord blood	blood
13	chr3:194886800-194896400	Weak transcription	Pancreas	Pancrea
14	chr3:194887000-194895800	Weak transcription	Fetal Intestine Small	intestine
15	chr3:194889800-194900200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr3:194890000-194902800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:194890200-194895000	Weak transcription	Brain Germinal Matrix	brain
18	chr3:194890200-194896200	Weak transcription	HepG2	liver
19	chr3:194891000-194895200	Enhancers	Fetal Heart	heart
20	chr3:194891000-194895200	Enhancers	HUVEC	blood vessel
21	chr3:194891200-194894200	Enhancers	Fetal Brain Female	brain
22	chr3:194891200-194895400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr3:194891400-194895600	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr3:194891600-194894400	Enhancers	K562	blood
25	chr3:194891800-194894800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr3:194892000-194894400	Weak transcription	Fetal Stomach	stomach
27	chr3:194892000-194895800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr3:194892000-194899000	Weak transcription	Brain Anterior Caudate	brain
29	chr3:194892000-194899200	Weak transcription	Esophagus	oesophagus
30	chr3:194892200-194899400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr3:194892200-194902200	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr3:194892400-194894600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr3:194892400-194895200	Enhancers	Primary hematopoietic stem cells	blood
34	chr3:194892400-194907400	Weak transcription	HSMMtube	muscle
35	chr3:194892600-194894200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr3:194892600-194895200	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr3:194892600-194895800	Weak transcription	Adipose Nuclei	Adipose
38	chr3:194892600-194906200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr3:194892800-194895000	Enhancers	Fetal Muscle Leg	muscle
40	chr3:194892800-194895400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr3:194893000-194894200	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr3:194893000-194894400	Enhancers	Placenta	Placenta
43	chr3:194893000-194894600	Enhancers	H1 Cell Line	embryonic stem cell
44	chr3:194893000-194894800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr3:194893000-194894800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr3:194893000-194894800	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr3:194893000-194894800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr3:194893000-194895000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:194893000-194895000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr3:194893000-194895000	Enhancers	GM12878-XiMat	blood

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