Variant report

Variant	rs2708597
Chromosome Location	chr7:112056230-112056231
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:112055131..112056748-chr7:112061740..112063861,3	MCF-7	breast:
2	chr7:112053279..112056723-chr7:112089094..112092392,5	MCF-7	breast:
3	chr7:112054145..112057717-chr7:112058317..112061377,3	K562	blood:
4	chr7:112055161..112057071-chr7:112058715..112061690,2	MCF-7	breast:
5	chr7:112053959..112058011-chr7:112089104..112092928,7	MCF-7	breast:
6	chr7:112049730..112052171-chr7:112053926..112056276,3	K562	blood:
7	chr7:111389825..111391988-chr7:112055101..112056632,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000006652	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10238141	0.89[CEU][hapmap];0.90[JPT][hapmap]
rs10272126	0.89[CEU][hapmap]
rs10272188	0.80[CEU][hapmap]
rs10953708	0.88[CEU][hapmap];0.83[CHB][hapmap];0.88[JPT][hapmap]
rs10953710	0.91[CEU][hapmap]
rs10953711	0.91[CEU][hapmap]
rs11761807	0.89[CEU][hapmap]
rs11763356	0.83[ASN][1000 genomes]
rs11763588	0.89[CEU][hapmap]
rs11763768	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs11768608	0.89[CEU][hapmap];0.83[CHB][hapmap];0.88[JPT][hapmap]
rs11768793	0.89[JPT][hapmap]
rs11768891	0.90[JPT][hapmap]
rs11769219	0.89[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs11773393	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs12666911	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12673259	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13230061	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs17159389	0.89[CEU][hapmap]
rs17159446	0.89[CEU][hapmap];0.88[YRI][hapmap]
rs1985929	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2188534	0.84[ASN][1000 genomes]
rs2396536	0.89[CEU][hapmap]
rs2520470	0.84[ASN][1000 genomes]
rs2520471	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2520473	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2520474	0.84[ASN][1000 genomes]
rs2520475	0.84[ASN][1000 genomes]
rs2523029	0.93[ASN][1000 genomes]
rs2523030	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2523035	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2523037	0.86[ASN][1000 genomes]
rs2523038	0.86[ASN][1000 genomes]
rs2523039	0.92[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs2523041	0.86[ASN][1000 genomes]
rs2708588	0.88[CEU][hapmap];0.92[CHB][hapmap];0.88[JPT][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2708590	0.93[ASN][1000 genomes]
rs2708592	1.00[CEU][hapmap];0.92[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2708594	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2708595	0.92[CHB][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs2708598	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2708603	1.00[CEU][hapmap];0.92[CHB][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2708604	0.92[CHB][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs2708605	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3109114	0.89[CEU][hapmap]
rs34171150	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3823515	1.00[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs41281063	0.83[ASN][1000 genomes]
rs4464880	0.91[CEU][hapmap]
rs4730516	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs4730529	0.81[CHB][hapmap]
rs55662318	0.87[ASN][1000 genomes]
rs56969420	0.86[ASN][1000 genomes]
rs6955231	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs6978927	0.89[CEU][hapmap]
rs7781245	0.83[CHB][hapmap];0.88[JPT][hapmap]
rs7795336	0.91[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	nsv831097	chr7:112000837-112113173	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer 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 target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112046000-112060400	Weak transcription	Brain Angular Gyrus	brain
2	chr7:112051600-112062000	Weak transcription	Right Atrium	heart
3	chr7:112051800-112059800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:112051800-112060400	Weak transcription	Brain Hippocampus Middle	brain
5	chr7:112051800-112060400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr7:112052800-112059800	Weak transcription	HepG2	liver
7	chr7:112053800-112062000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr7:112054000-112059800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr7:112055000-112056400	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr7:112055200-112056600	Enhancers	Primary hematopoietic stem cells	blood
11	chr7:112055400-112056600	Enhancers	Fetal Thymus	thymus
12	chr7:112055400-112056800	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr7:112055400-112057000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:112055400-112060400	Weak transcription	Colon Smooth Muscle	Colon
15	chr7:112055600-112056400	Enhancers	H9 Cell Line	embryonic stem cell
16	chr7:112055600-112056400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:112055600-112056400	Enhancers	Thymus	Thymus
18	chr7:112056000-112060400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:112056200-112056400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:112056200-112056400	Enhancers	Osteobl	bone
21	chr7:112056200-112056600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:112056200-112056600	Flanking Active TSS	Dnd41	blood
23	chr7:112056200-112056800	Enhancers	HUVEC	blood vessel

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