Variant report

Variant	rs17159353
Chromosome Location	chr7:111837630-111837631
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	chr7:111836849..111841374-chr7:111842726..111847291,6	MCF-7	breast:
2	chr7:111836349..111839066-chr7:111842425..111844306,2	K562	blood:

Variant related genes	Relation type
ENSG00000128512	Chromatin interaction
ENSG00000198839	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10046468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10224789	0.93[ASN][1000 genomes]
rs10227494	1.00[ASN][1000 genomes]
rs10232109	1.00[ASN][1000 genomes]
rs10232110	1.00[ASN][1000 genomes]
rs10237213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10239663	1.00[ASN][1000 genomes]
rs10243005	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10246422	1.00[ASN][1000 genomes]
rs10248314	1.00[ASN][1000 genomes]
rs10251698	1.00[ASN][1000 genomes]
rs10253148	0.86[ASN][1000 genomes]
rs10261860	1.00[ASN][1000 genomes]
rs10266976	1.00[ASN][1000 genomes]
rs10269057	1.00[ASN][1000 genomes]
rs10274016	0.93[ASN][1000 genomes]
rs10275406	1.00[ASN][1000 genomes]
rs10276140	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10276369	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10276727	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10276853	1.00[ASN][1000 genomes]
rs10278420	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10281805	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10282279	1.00[ASN][1000 genomes]
rs1047550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1047551	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12530699	1.00[ASN][1000 genomes]
rs12532522	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12534930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12537934	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159566	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17159604	1.00[ASN][1000 genomes]
rs17491423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2189289	1.00[ASN][1000 genomes]
rs2285732	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs28532417	1.00[ASN][1000 genomes]
rs3109116	1.00[ASN][1000 genomes]
rs3128395	1.00[ASN][1000 genomes]
rs41281060	0.93[ASN][1000 genomes]
rs56132236	1.00[ASN][1000 genomes]
rs56341778	1.00[ASN][1000 genomes]
rs57214357	1.00[ASN][1000 genomes]
rs60127009	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60691495	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61669542	1.00[ASN][1000 genomes]
rs67064485	1.00[ASN][1000 genomes]
rs67604537	1.00[ASN][1000 genomes]
rs6943448	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6944498	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs6947063	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6949234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6950282	1.00[ASN][1000 genomes]
rs6964483	1.00[ASN][1000 genomes]
rs6965896	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6971023	1.00[ASN][1000 genomes]
rs73192992	1.00[ASN][1000 genomes]
rs73192993	1.00[ASN][1000 genomes]
rs73193000	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195204	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195211	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195218	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195220	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195223	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73195224	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73195225	1.00[ASN][1000 genomes]
rs73197338	1.00[ASN][1000 genomes]
rs73197343	1.00[ASN][1000 genomes]
rs73197349	1.00[ASN][1000 genomes]
rs73197363	1.00[ASN][1000 genomes]
rs73197366	1.00[ASN][1000 genomes]
rs73197367	1.00[ASN][1000 genomes]
rs73197376	1.00[ASN][1000 genomes]
rs7786555	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7790065	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7806811	1.00[ASN][1000 genomes]
rs7810149	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7810734	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7812188	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021527	chr7:111194596-111851619	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv539086	chr7:111194596-111851619	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer 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	15 gene(s)	inside rSNPs	diseases
5	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111823200-111843200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr7:111823400-111839000	Weak transcription	Fetal Lung	lung
3	chr7:111826000-111839000	Weak transcription	NHLF	lung
4	chr7:111826000-111842200	Enhancers	HUVEC	blood vessel
5	chr7:111829200-111842600	Weak transcription	Psoas Muscle	Psoas
6	chr7:111831800-111842600	Weak transcription	Right Ventricle	heart
7	chr7:111832000-111842600	Weak transcription	Left Ventricle	heart
8	chr7:111833000-111839000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:111833400-111838200	Weak transcription	Hela-S3	cervix
10	chr7:111833400-111838600	Weak transcription	A549	lung
11	chr7:111833400-111838800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:111833400-111841400	Weak transcription	NH-A	brain
13	chr7:111834400-111838400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:111834600-111837800	Weak transcription	NHEK	skin
15	chr7:111834600-111838600	Weak transcription	HMEC	breast
16	chr7:111835600-111838600	Enhancers	Brain Hippocampus Middle	brain
17	chr7:111835600-111839000	Weak transcription	Liver	Liver
18	chr7:111835800-111838200	Enhancers	Brain Substantia Nigra	brain
19	chr7:111836200-111843000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:111836200-111843000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr7:111836400-111840800	Weak transcription	Ovary	ovary
22	chr7:111836600-111838200	Weak transcription	HepG2	liver
23	chr7:111836600-111838400	Weak transcription	Brain Anterior Caudate	brain
24	chr7:111836600-111839600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr7:111836600-111840800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr7:111836600-111843000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr7:111836600-111843600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr7:111836800-111838200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:111836800-111843000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr7:111836800-111843000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr7:111836800-111843800	Weak transcription	Lung	lung
32	chr7:111837200-111838600	Enhancers	Colon Smooth Muscle	Colon
33	chr7:111837400-111838600	Enhancers	Brain Angular Gyrus	brain
34	chr7:111837600-111838000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:111837600-111841000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr7:111837600-111841800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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