Variant report

Variant	rs1807328
Chromosome Location	chr2:47296107-47296108
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47292753..47295040-chr2:47295086..47296982,3	MCF-7	breast:
2	chr2:47295023..47298657-chr2:47300855..47310213,9	MCF-7	breast:
3	chr2:47295441..47298329-chr2:47298635..47300784,3	MCF-7	breast:
4	chr2:47271650..47273427-chr2:47295265..47298001,2	MCF-7	breast:
5	chr2:47295079..47297888-chr2:47402697..47404498,3	K562	blood:

Variant related genes	Relation type
ENSG00000143933	Chromatin interaction
ENSG00000225187	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1046263	0.81[CEU][hapmap];0.88[GIH][hapmap];0.81[TSI][hapmap]
rs1046267	0.95[CEU][hapmap];0.88[GIH][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes]
rs11125114	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13389149	0.85[CHB][hapmap]
rs13393256	1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1573958	1.00[JPT][hapmap]
rs1807327	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2347603	0.86[CEU][hapmap]
rs2436768	0.93[ASN][1000 genomes]
rs2570511	0.97[ASN][1000 genomes]
rs2570513	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2570515	0.80[EUR][1000 genomes]
rs2692216	0.91[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2692219	0.83[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2916261	0.87[ASN][1000 genomes]
rs2949785	0.85[CHB][hapmap]
rs736147	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs736148	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7569495	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.84[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs940737	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9973596	1.00[YRI][hapmap];0.93[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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
5	nsv524970	chr2:47162739-47302095	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1000377	chr2:47189386-47344029	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv525197	chr2:47210747-47297973	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv984437	chr2:47270533-47307361	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv873998	chr2:47273732-47313624	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47230200-47302800	Strong transcription	Dnd41	blood
2	chr2:47270800-47296600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:47284400-47296400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:47284400-47296400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr2:47284600-47298400	Strong transcription	Thymus	Thymus
6	chr2:47286800-47296600	Strong transcription	Fetal Thymus	thymus
7	chr2:47287400-47296200	Strong transcription	Primary B cells from cord blood	blood
8	chr2:47287800-47296600	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr2:47288000-47300400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:47288400-47296400	Enhancers	Fetal Heart	heart
11	chr2:47290400-47299000	Genic enhancers	Fetal Muscle Leg	muscle
12	chr2:47290600-47296400	Genic enhancers	A549	lung
13	chr2:47290800-47297800	Genic enhancers	Primary monocytes fromperipheralblood	blood
14	chr2:47291000-47296200	Genic enhancers	Monocytes-CD14+_RO01746	blood
15	chr2:47291400-47296600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:47291600-47296200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:47291600-47300800	Weak transcription	Brain Germinal Matrix	brain
18	chr2:47291800-47296600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:47291800-47297800	Genic enhancers	Spleen	Spleen
20	chr2:47291800-47301200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr2:47292000-47296600	Weak transcription	GM12878-XiMat	blood
22	chr2:47292000-47298800	Enhancers	Placenta	Placenta
23	chr2:47292200-47296400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:47292200-47298200	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr2:47292400-47296400	Enhancers	Colon Smooth Muscle	Colon
26	chr2:47292400-47299600	Enhancers	HUVEC	blood vessel
27	chr2:47292600-47302200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:47292800-47296800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr2:47292800-47300000	Enhancers	NHDF-Ad	bronchial
30	chr2:47293000-47296200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr2:47293000-47296200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:47293000-47296400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr2:47293000-47296600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:47293000-47297400	Weak transcription	Fetal Kidney	kidney
35	chr2:47293000-47300600	Enhancers	Right Ventricle	heart
36	chr2:47293000-47301400	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr2:47293200-47296200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:47293200-47299200	Enhancers	Liver	Liver
39	chr2:47293400-47296200	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr2:47293400-47296200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr2:47293400-47296600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr2:47293400-47296600	Weak transcription	Aorta	Aorta
43	chr2:47293400-47296800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr2:47293400-47297400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr2:47293600-47296200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr2:47293600-47296200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr2:47293600-47296200	Weak transcription	Small Intestine	intestine
48	chr2:47293600-47296400	Weak transcription	Fetal Brain Male	brain
49	chr2:47293600-47296600	Genic enhancers	Primary T cells fromperipheralblood	blood
50	chr2:47293800-47296200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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