Variant report

Variant	rs73397499
Chromosome Location	chr7:99039627-99039628
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:99008645..99011330-chr7:99036359..99039743,4	K562	blood:
2	chr7:98940912..98943570-chr7:99037512..99039699,2	K562	blood:
3	chr7:99038361..99041126-chr7:99102588..99104976,2	K562	blood:

Variant related genes	Relation type
ENSG00000196652	Chromatin interaction
ENSG00000106245	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10251282	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10279308	0.95[ASN][1000 genomes]
rs1045012	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11734	0.89[ASN][1000 genomes]
rs11972210	0.83[ASN][1000 genomes]
rs11978089	0.95[ASN][1000 genomes]
rs17161700	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17161726	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17854665	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2003499	0.95[ASN][1000 genomes]
rs2293256	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2404487	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2404488	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28365067	0.89[ASN][1000 genomes]
rs28377312	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28460612	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28558950	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28668326	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28753399	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34943973	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3528	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3823813	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41258334	0.89[ASN][1000 genomes]
rs45441991	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs45448997	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45451992	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45461000	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45492501	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs45529541	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs45555335	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs45592335	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55927283	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55942267	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56167514	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs57367781	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs57830676	0.83[ASN][1000 genomes]
rs57832867	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59240302	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59574285	0.89[ASN][1000 genomes]
rs59672032	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6956305	0.89[ASN][1000 genomes]
rs6974831	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6976017	0.89[ASN][1000 genomes]
rs6977165	0.89[ASN][1000 genomes]
rs73397447	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397481	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401507	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401510	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401516	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73403247	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73403272	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73403286	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73403290	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73405247	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73711280	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73711293	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73711294	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73713507	0.94[ASN][1000 genomes]
rs73713531	0.89[ASN][1000 genomes]
rs73713580	0.89[ASN][1000 genomes]
rs7794068	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7805661	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs917152	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs952319	0.89[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	chr7:99037800-99039800	Enhancers	Fetal Muscle Leg	muscle
2	chr7:99037800-99039800	Enhancers	Ovary	ovary
3	chr7:99037800-99042400	Weak transcription	Aorta	Aorta
4	chr7:99037800-99046200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:99038000-99039800	Enhancers	NHDF-Ad	bronchial
6	chr7:99038000-99040200	Strong transcription	K562	blood
7	chr7:99038000-99040400	Weak transcription	Primary T cells from cord blood	blood
8	chr7:99038000-99040400	Weak transcription	Fetal Lung	lung
9	chr7:99038000-99040400	Weak transcription	Thymus	Thymus
10	chr7:99038000-99040800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr7:99038000-99041000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr7:99038000-99041600	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr7:99038000-99041600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr7:99038000-99042000	Weak transcription	Lung	lung
15	chr7:99038000-99042400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:99038000-99042400	Weak transcription	Fetal Kidney	kidney
17	chr7:99038000-99042600	Weak transcription	HUVEC	blood vessel
18	chr7:99038000-99045600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr7:99038000-99054600	Weak transcription	Stomach Mucosa	stomach
20	chr7:99038000-99061600	Strong transcription	Fetal Stomach	stomach
21	chr7:99038200-99039800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:99038200-99039800	Enhancers	Stomach Smooth Muscle	stomach
23	chr7:99038200-99040000	Genic enhancers	H1 Cell Line	embryonic stem cell
24	chr7:99038200-99040000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:99038200-99040000	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr7:99038200-99040400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr7:99038200-99040400	Weak transcription	Left Ventricle	heart
28	chr7:99038200-99040400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr7:99038200-99040400	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr7:99038200-99040600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:99038200-99040600	Weak transcription	Primary B cells from peripheral blood	blood
32	chr7:99038200-99040600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr7:99038200-99040800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr7:99038200-99040800	Weak transcription	Primary B cells from cord blood	blood
35	chr7:99038200-99041000	Weak transcription	Liver	Liver
36	chr7:99038200-99041000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr7:99038200-99041000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr7:99038200-99041000	Weak transcription	Fetal Brain Female	brain
39	chr7:99038200-99041200	Weak transcription	Brain Germinal Matrix	brain
40	chr7:99038200-99041200	Weak transcription	Gastric	stomach
41	chr7:99038200-99042000	Weak transcription	Fetal Thymus	thymus
42	chr7:99038200-99042200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr7:99038200-99042200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr7:99038200-99042200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr7:99038200-99042200	Weak transcription	Brain Anterior Caudate	brain
46	chr7:99038200-99042400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr7:99038200-99042400	Weak transcription	Esophagus	oesophagus
48	chr7:99038200-99042400	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr7:99038200-99042400	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr7:99038200-99042600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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