Variant report

Variant	rs2254737
Chromosome Location	chr7:17811797-17811798
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	chr7:17808606..17813433-chr7:17978670..17983047,5	MCF-7	breast:
2	chr7:17811330..17814025-chr7:17979627..17981525,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000071189	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10264355	0.85[ASN][1000 genomes]
rs1357796	0.80[YRI][hapmap]
rs1404416	0.85[ASN][1000 genomes]
rs1404417	0.85[ASN][1000 genomes]
rs1404418	0.85[ASN][1000 genomes]
rs1404419	0.85[ASN][1000 genomes]
rs1404421	0.84[ASN][1000 genomes]
rs1965534	0.81[ASN][1000 genomes]
rs2068172	0.85[ASN][1000 genomes]
rs2110015	0.84[ASN][1000 genomes]
rs2254361	0.85[ASN][1000 genomes]
rs2254594	0.85[ASN][1000 genomes]
rs2537592	0.85[ASN][1000 genomes]
rs2537593	0.85[ASN][1000 genomes]
rs2537594	0.85[ASN][1000 genomes]
rs2691556	0.85[ASN][1000 genomes]
rs2691581	0.81[ASN][1000 genomes]
rs2691582	0.81[ASN][1000 genomes]
rs2691584	0.85[ASN][1000 genomes]
rs2691592	0.85[ASN][1000 genomes]
rs2691593	0.85[ASN][1000 genomes]
rs2691595	0.85[ASN][1000 genomes]
rs2691596	0.85[ASN][1000 genomes]
rs2691604	0.85[ASN][1000 genomes]
rs2691610	0.85[ASN][1000 genomes]
rs2691616	0.85[ASN][1000 genomes]
rs2691617	0.85[ASN][1000 genomes]
rs2723503	0.85[ASN][1000 genomes]
rs2723506	0.85[ASN][1000 genomes]
rs2723507	0.85[ASN][1000 genomes]
rs2723508	0.85[ASN][1000 genomes]
rs2723509	0.85[ASN][1000 genomes]
rs2723510	0.85[ASN][1000 genomes]
rs2723511	0.85[ASN][1000 genomes]
rs2723513	0.85[ASN][1000 genomes]
rs2723514	0.85[ASN][1000 genomes]
rs2723516	0.85[ASN][1000 genomes]
rs2723517	0.85[ASN][1000 genomes]
rs2723518	0.85[ASN][1000 genomes]
rs2723519	0.87[CHB][hapmap];0.85[ASN][1000 genomes]
rs2723520	0.87[CHB][hapmap];0.85[ASN][1000 genomes]
rs2723521	0.87[CHB][hapmap];0.85[ASN][1000 genomes]
rs4316058	0.80[CHB][hapmap]
rs4721666	0.81[YRI][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	nsv869352	chr7:17237983-17932878	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS 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	23 gene(s)	inside rSNPs	diseases
2	nsv1021524	chr7:17251148-17963307	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1021289	chr7:17254117-17873816	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv538754	chr7:17254117-17873816	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv534309	chr7:17254118-17932878	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv533938	chr7:17254118-18040301	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv887804	chr7:17571140-17885468	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1024398	chr7:17630148-18545073	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
9	nsv538764	chr7:17630148-18545073	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
10	esv2764016	chr7:17800816-17815402	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17809200-17813800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr7:17809800-17812600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr7:17810000-17812600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr7:17810200-17812800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr7:17810200-17815000	Enhancers	HMEC	breast
6	chr7:17810600-17811800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:17810600-17812000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr7:17810600-17812400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:17810800-17811800	Weak transcription	Fetal Stomach	stomach
10	chr7:17810800-17812000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr7:17810800-17812000	Weak transcription	HSMM	muscle
12	chr7:17810800-17813400	Enhancers	Thymus	Thymus
13	chr7:17811000-17812000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:17811000-17812000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:17811000-17812600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr7:17811200-17812200	Weak transcription	NHEK	skin
17	chr7:17811200-17812400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr7:17811200-17812800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr7:17811400-17811800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:17811400-17811800	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr7:17811600-17812000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr7:17811600-17812000	Active TSS	Fetal Heart	heart
23	chr7:17811600-17812600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:17811600-17812800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr7:17811600-17813200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:17811600-17813400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:17811600-17813600	Enhancers	Colon Smooth Muscle	Colon
28	chr7:17811600-17813800	Enhancers	Fetal Thymus	thymus

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