Variant report

Variant	rs59240302
Chromosome Location	chr7:99072991-99072992
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:99072836-99073007	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr7:99072955-99073155	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:99070549..99074806-chr7:99079713..99086160,8	K562	blood:
2	chr7:99070856..99073411-chr7:99081785..99084342,2	MCF-7	breast:
3	chr7:99071113..99073146-chr7:99090531..99092211,2	MCF-7	breast:

Variant related genes	Relation type
ZNF789	TF binding region
ENSG00000198556	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10251282	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10279308	0.89[ASN][1000 genomes]
rs1045012	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11734	0.94[ASN][1000 genomes]
rs11972210	0.88[ASN][1000 genomes]
rs11978089	0.89[ASN][1000 genomes]
rs17161700	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17161726	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17854665	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2003499	0.89[ASN][1000 genomes]
rs2293256	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2404487	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2404488	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28365067	0.94[ASN][1000 genomes]
rs28377312	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28460612	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28558950	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28668326	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28753399	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34943973	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3528	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3823813	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs41258334	0.94[ASN][1000 genomes]
rs45441991	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs45448997	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs45451992	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs45461000	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs45492501	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs45529541	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs45555335	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs45592335	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs45593341	0.88[ASN][1000 genomes]
rs55830753	0.88[ASN][1000 genomes]
rs55927283	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55942267	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56167514	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57367781	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57830676	0.88[ASN][1000 genomes]
rs57832867	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59574285	0.94[ASN][1000 genomes]
rs59672032	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6956305	0.94[ASN][1000 genomes]
rs6974831	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6976017	0.94[ASN][1000 genomes]
rs6977165	0.94[ASN][1000 genomes]
rs73397447	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73397481	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73397499	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73401507	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73401510	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73401516	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73403247	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73403272	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73403286	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73403290	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73405247	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73711280	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73711293	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73711294	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73713507	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73713531	0.94[ASN][1000 genomes]
rs73713580	0.94[ASN][1000 genomes]
rs7794068	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7805661	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7806754	0.88[ASN][1000 genomes]
rs917152	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs952319	0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99071200-99074000	Weak transcription	Gastric	stomach
2	chr7:99071200-99076200	Weak transcription	Aorta	Aorta
3	chr7:99071200-99077600	Weak transcription	Ovary	ovary
4	chr7:99071200-99091000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr7:99071200-99091600	Weak transcription	Small Intestine	intestine
6	chr7:99071400-99073000	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr7:99071400-99073200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr7:99071400-99073400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:99071400-99073600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:99071400-99073800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr7:99071400-99074000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:99071400-99074000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr7:99071400-99075800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr7:99071400-99075800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr7:99071400-99075800	Weak transcription	Esophagus	oesophagus
16	chr7:99071400-99076800	Weak transcription	NHEK	skin
17	chr7:99071400-99077000	Weak transcription	Fetal Lung	lung
18	chr7:99071400-99081600	Weak transcription	Right Ventricle	heart
19	chr7:99071400-99090400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:99071400-99090600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr7:99071400-99090600	Weak transcription	Right Atrium	heart
22	chr7:99071400-99096200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr7:99071600-99073600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:99071600-99073800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr7:99071600-99074000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:99071600-99074000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr7:99071600-99075600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr7:99071600-99075800	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr7:99071600-99075800	Weak transcription	Lung	lung
30	chr7:99071600-99076000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr7:99071600-99090400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr7:99071600-99091200	Weak transcription	Fetal Heart	heart
33	chr7:99071800-99073200	Weak transcription	Primary T cells from cord blood	blood
34	chr7:99071800-99073200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:99071800-99073600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:99071800-99073600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:99071800-99073600	Weak transcription	Fetal Thymus	thymus
38	chr7:99071800-99073800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:99071800-99073800	Weak transcription	Primary B cells from peripheral blood	blood
40	chr7:99071800-99073800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:99071800-99073800	Weak transcription	Colonic Mucosa	Colon
42	chr7:99071800-99073800	Weak transcription	Fetal Brain Female	brain
43	chr7:99071800-99073800	Weak transcription	Fetal Intestine Large	intestine
44	chr7:99071800-99073800	Weak transcription	Hela-S3	cervix
45	chr7:99071800-99074000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr7:99071800-99074000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr7:99071800-99074000	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr7:99071800-99074000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr7:99071800-99074000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr7:99071800-99074000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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