Variant report

Variant	rs59672032
Chromosome Location	chr7:99058697-99058698
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:99058087-99058701	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr7:99058082-99059484	K562	blood:	n/a	n/a
3	POLR2A	chr7:99057824-99059157	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr7:99057514-99059285	K562	blood:	n/a	n/a
5	POLR2A	chr7:99058638-99058800	K562	blood:	n/a	n/a
6	POLR2A	chr7:99057918-99058818	HepG2	liver:	n/a	n/a
7	POLR2A	chr7:99057694-99059068	PFSK-1	brain:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:99058626..99061250-chr7:99076948..99079594,2	K562	blood:
2	chr7:99057427..99060113-chr7:99097887..99100636,2	K562	blood:
3	chr7:99055033..99067556-chr7:99095016..99105645,21	K562	blood:
4	chr7:99058374..99059981-chr7:99097679..99100628,2	MCF-7	breast:

No data

Variant related genes	Relation type
ATP5J2	TF binding region
ENSG00000196652	Chromatin interaction
ENSG00000160908	Chromatin interaction

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

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

rs_ID	r²[population]
rs10251282	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10279308	0.95[ASN][1000 genomes]
rs1045012	0.89[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	0.85[EUR][1000 genomes]
rs17161726	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17854665	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2003499	0.95[ASN][1000 genomes]
rs2293256	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2404487	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2404488	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28365067	0.89[ASN][1000 genomes]
rs28377312	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28460612	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28558950	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28668326	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28753399	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34943973	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3528	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3823813	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41258334	0.89[ASN][1000 genomes]
rs45441991	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs45448997	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45451992	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45461000	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45492501	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs45529541	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs45555335	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs45592335	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs45593341	0.83[ASN][1000 genomes]
rs55830753	0.83[ASN][1000 genomes]
rs55927283	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55942267	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56167514	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs57367781	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs57830676	0.83[ASN][1000 genomes]
rs57832867	0.85[EUR][1000 genomes]
rs59240302	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59574285	0.89[ASN][1000 genomes]
rs6956305	0.89[ASN][1000 genomes]
rs6974831	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6976017	0.89[ASN][1000 genomes]
rs6977165	0.89[ASN][1000 genomes]
rs73397447	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397481	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397499	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401507	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401510	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401516	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73403247	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73403272	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73403286	0.94[ASN][1000 genomes]
rs73403290	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73405247	0.94[ASN][1000 genomes]
rs73711280	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73711293	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73711294	1.00[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	0.94[ASN][1000 genomes]
rs7805661	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7806754	0.83[ASN][1000 genomes]
rs917152	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs952319	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99038000-99061600	Strong transcription	Fetal Stomach	stomach
2	chr7:99038200-99061800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr7:99038200-99061800	Strong transcription	Fetal Intestine Small	intestine
4	chr7:99038200-99062000	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr7:99038200-99062000	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr7:99038200-99062400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:99038400-99062400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:99038600-99062400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:99039000-99059000	Strong transcription	Fetal Intestine Large	intestine
10	chr7:99039200-99061600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr7:99039400-99059600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:99039600-99062000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:99040000-99059000	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr7:99040000-99060600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:99040200-99059400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:99040200-99059400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:99040400-99059000	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr7:99040400-99059600	Strong transcription	Primary T cells from cord blood	blood
19	chr7:99040400-99060800	Strong transcription	Duodenum Mucosa	Duodenum
20	chr7:99040400-99062000	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr7:99040800-99062000	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr7:99042200-99059200	Strong transcription	GM12878-XiMat	blood
23	chr7:99042400-99059000	Strong transcription	Placenta Amnion	Placenta Amnion
24	chr7:99044200-99060400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr7:99045200-99058800	Strong transcription	A549	lung
26	chr7:99045200-99059000	Strong transcription	Aorta	Aorta
27	chr7:99046600-99062800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr7:99047000-99058800	Weak transcription	Fetal Brain Male	brain
29	chr7:99048200-99059000	Strong transcription	Stomach Smooth Muscle	stomach
30	chr7:99053600-99059600	Strong transcription	Hela-S3	cervix
31	chr7:99055000-99059800	Genic enhancers	Placenta	Placenta
32	chr7:99055400-99059000	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr7:99055400-99059200	Genic enhancers	Spleen	Spleen
34	chr7:99056000-99059000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr7:99056400-99060600	Strong transcription	Fetal Muscle Leg	muscle
36	chr7:99056400-99060600	Weak transcription	HUVEC	blood vessel
37	chr7:99056400-99061600	Strong transcription	Fetal Muscle Trunk	muscle
38	chr7:99056600-99060400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr7:99056800-99059400	Genic enhancers	Gastric	stomach
40	chr7:99057000-99062400	Weak transcription	Fetal Kidney	kidney
41	chr7:99057000-99062800	Weak transcription	HSMMtube	muscle
42	chr7:99057200-99060400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr7:99057200-99062400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr7:99057200-99062600	Weak transcription	Stomach Mucosa	stomach
45	chr7:99057400-99059400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
46	chr7:99057400-99060200	Weak transcription	Primary hematopoietic stem cells	blood
47	chr7:99057400-99061800	Genic enhancers	HepG2	liver
48	chr7:99057400-99063000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr7:99057600-99060400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:99057600-99060400	Weak transcription	Primary B cells from cord blood	blood

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