Variant report

Variant	rs45492098
Chromosome Location	chr7:99040273-99040274
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	chr7:99038361..99041126-chr7:99102588..99104976,2	K562	blood:
2	chr7:99036970..99039265-chr7:99039739..99041583,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196652	Chromatin interaction
ENSG00000160917	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1002172	0.84[EUR][1000 genomes]
rs1004387	0.83[EUR][1000 genomes]
rs10225314	0.84[EUR][1000 genomes]
rs10244158	0.81[ASN][1000 genomes]
rs10265385	0.83[ASN][1000 genomes]
rs10271049	0.82[ASN][1000 genomes]
rs1043466	0.81[ASN][1000 genomes]
rs10464604	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11539770	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12538826	0.95[ASN][1000 genomes]
rs13227795	0.81[ASN][1000 genomes]
rs13240600	0.81[ASN][1000 genomes]
rs13437771	0.81[ASN][1000 genomes]
rs17161652	0.92[EUR][1000 genomes]
rs17161677	1.00[EUR][1000 genomes]
rs17161698	1.00[EUR][1000 genomes]
rs17161766	0.92[EUR][1000 genomes]
rs17161768	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17161769	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17161771	0.84[EUR][1000 genomes]
rs17161772	0.84[EUR][1000 genomes]
rs17161774	0.92[EUR][1000 genomes]
rs17161780	0.92[EUR][1000 genomes]
rs17161783	0.92[EUR][1000 genomes]
rs1980307	0.81[ASN][1000 genomes]
rs1985453	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2057906	1.00[EUR][1000 genomes]
rs2107705	1.00[EUR][1000 genomes]
rs2240384	0.82[ASN][1000 genomes]
rs2240385	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2269985	1.00[EUR][1000 genomes]
rs2280600	0.81[ASN][1000 genomes]
rs2280601	0.81[ASN][1000 genomes]
rs2404322	1.00[EUR][1000 genomes]
rs3764815	1.00[EUR][1000 genomes]
rs3779354	0.81[ASN][1000 genomes]
rs3800960	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3823812	0.92[EUR][1000 genomes]
rs45540134	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs45622743	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4646446	0.92[EUR][1000 genomes]
rs4646447	0.92[EUR][1000 genomes]
rs4646449	0.92[EUR][1000 genomes]
rs4646453	0.92[EUR][1000 genomes]
rs4646456	0.92[EUR][1000 genomes]
rs58024720	0.84[EUR][1000 genomes]
rs58222677	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58421977	1.00[EUR][1000 genomes]
rs59986060	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60301933	0.86[ASN][1000 genomes]
rs60865030	0.92[EUR][1000 genomes]
rs61159815	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61337492	0.92[EUR][1000 genomes]
rs61402640	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61543997	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6962772	0.81[ASN][1000 genomes]
rs72494451	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72494452	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73709637	1.00[EUR][1000 genomes]
rs73709641	1.00[EUR][1000 genomes]
rs7794682	0.82[ASN][1000 genomes]
rs883403	0.82[ASN][1000 genomes]
rs940336	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3433144	chr7:98777878-99060209	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv831069	chr7:98948128-99127584	Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv888767	chr7:99017832-99050039	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv888768	chr7:99017832-99052428	Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv888769	chr7:99018584-99041748	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
6	nsv888770	chr7:99021344-99041748	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99037800-99042400	Weak transcription	Aorta	Aorta
2	chr7:99037800-99046200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:99038000-99040400	Weak transcription	Primary T cells from cord blood	blood
4	chr7:99038000-99040400	Weak transcription	Fetal Lung	lung
5	chr7:99038000-99040400	Weak transcription	Thymus	Thymus
6	chr7:99038000-99040800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr7:99038000-99041000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr7:99038000-99041600	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr7:99038000-99041600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr7:99038000-99042000	Weak transcription	Lung	lung
11	chr7:99038000-99042400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:99038000-99042400	Weak transcription	Fetal Kidney	kidney
13	chr7:99038000-99042600	Weak transcription	HUVEC	blood vessel
14	chr7:99038000-99045600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr7:99038000-99054600	Weak transcription	Stomach Mucosa	stomach
16	chr7:99038000-99061600	Strong transcription	Fetal Stomach	stomach
17	chr7:99038200-99040400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr7:99038200-99040400	Weak transcription	Left Ventricle	heart
19	chr7:99038200-99040400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr7:99038200-99040400	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr7:99038200-99040600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:99038200-99040600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr7:99038200-99040600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr7:99038200-99040800	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr7:99038200-99040800	Weak transcription	Primary B cells from cord blood	blood
26	chr7:99038200-99041000	Weak transcription	Liver	Liver
27	chr7:99038200-99041000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr7:99038200-99041000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr7:99038200-99041000	Weak transcription	Fetal Brain Female	brain
30	chr7:99038200-99041200	Weak transcription	Brain Germinal Matrix	brain
31	chr7:99038200-99041200	Weak transcription	Gastric	stomach
32	chr7:99038200-99042000	Weak transcription	Fetal Thymus	thymus
33	chr7:99038200-99042200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr7:99038200-99042200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr7:99038200-99042200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr7:99038200-99042200	Weak transcription	Brain Anterior Caudate	brain
37	chr7:99038200-99042400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr7:99038200-99042400	Weak transcription	Esophagus	oesophagus
39	chr7:99038200-99042400	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr7:99038200-99042400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr7:99038200-99042600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr7:99038200-99042600	Weak transcription	Small Intestine	intestine
43	chr7:99038200-99043400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr7:99038200-99043600	Weak transcription	Fetal Brain Male	brain
45	chr7:99038200-99045600	Weak transcription	Psoas Muscle	Psoas
46	chr7:99038200-99056200	Weak transcription	Fetal Heart	heart
47	chr7:99038200-99061800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr7:99038200-99061800	Strong transcription	Fetal Intestine Small	intestine
49	chr7:99038200-99062000	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr7:99038200-99062000	Strong transcription	HUES64 Cell Line	embryonic stem cell

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