Variant report

Variant	rs7790943
Chromosome Location	chr7:111852053-111852054
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:111845474..111849215-chr7:111851403..111858964,11	K562	blood:
2	chr7:111850231..111853782-chr7:112032412..112034689,3	MCF-7	breast:
3	chr7:111851431..111854323-chr7:112090002..112092015,2	K562	blood:

Variant related genes	Relation type
ENSG00000128512	Chromatin interaction
ENSG00000006652	Chromatin interaction
ENSG00000198839	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10233086	0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10269050	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10953707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17492961	0.90[JPT][hapmap]
rs2729532	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2729533	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2729539	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4727765	0.90[ASN][1000 genomes]
rs4730513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730522	0.90[ASN][1000 genomes]
rs62473136	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62473142	0.86[ASN][1000 genomes]
rs62473155	0.83[ASN][1000 genomes]
rs6947391	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.97[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6971586	0.90[ASN][1000 genomes]
rs6971683	0.91[ASN][1000 genomes]
rs6972306	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6974364	0.88[YRI][hapmap]
rs757193	0.91[ASN][1000 genomes]
rs7792170	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7792614	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7795136	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7810513	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111847400-111861800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:111847600-111852400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:111847600-111852800	Weak transcription	Left Ventricle	heart
4	chr7:111847600-111854400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:111847600-111855200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:111847600-111855400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:111847600-111857800	Weak transcription	Placenta	Placenta
8	chr7:111847600-111861000	Weak transcription	Lung	lung
9	chr7:111847600-111863400	Weak transcription	Gastric	stomach
10	chr7:111847600-111864600	Weak transcription	Colonic Mucosa	Colon
11	chr7:111847600-111866200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr7:111847600-111878400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:111847800-111855400	Weak transcription	Brain Anterior Caudate	brain
14	chr7:111847800-111855400	Weak transcription	Right Atrium	heart
15	chr7:111847800-111865000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr7:111847800-111865600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr7:111847800-111866800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:111847800-111869800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr7:111848000-111852400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr7:111848000-111852600	Weak transcription	K562	blood
21	chr7:111848000-111853600	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr7:111848000-111854800	Weak transcription	Brain Hippocampus Middle	brain
23	chr7:111848000-111855000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr7:111848000-111855000	Weak transcription	Brain Angular Gyrus	brain
25	chr7:111848000-111855000	Weak transcription	Brain Substantia Nigra	brain
26	chr7:111848000-111855200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr7:111848000-111855200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr7:111848000-111855400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr7:111848000-111855400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr7:111848000-111861800	Weak transcription	Primary T cells from cord blood	blood
31	chr7:111848000-111866200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr7:111848000-111866600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:111848000-111866600	Weak transcription	Thymus	Thymus
34	chr7:111848000-111876000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr7:111848000-111892800	Weak transcription	Primary B cells from cord blood	blood
36	chr7:111848200-111852400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:111848200-111861000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:111848200-111863200	Weak transcription	Primary hematopoietic stem cells	blood
39	chr7:111848200-111863600	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr7:111848800-111855600	Enhancers	HepG2	liver
41	chr7:111849600-111854600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr7:111849800-111855000	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr7:111851000-111856200	Enhancers	Fetal Heart	heart
44	chr7:111851200-111852200	Enhancers	NHLF	lung
45	chr7:111851200-111853000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:111851200-111853000	Enhancers	Fetal Lung	lung
47	chr7:111851400-111852200	Enhancers	Osteobl	bone
48	chr7:111851600-111852200	Enhancers	Fetal Kidney	kidney
49	chr7:111851600-111852600	Weak transcription	Pancreas	Pancrea
50	chr7:111851600-111853000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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