Variant report

Variant	rs883403
Chromosome Location	chr7:99047978-99047979
allele	A/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	chr7:99047853-99048245	HL-60	blood:	n/a	n/a
2	POLR2A	chr7:99047967-99048151	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr7:99047492-99048634	HepG2	liver:	n/a	n/a
4	POLR2A	chr7:99046235-99048644	K562	blood:	n/a	n/a
5	POLR2A	chr7:99047371-99047984	K562	blood:	n/a	n/a
6	POLR2A	chr7:99046801-99048107	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr7:99047802-99047995	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:98970906..98973809-chr7:99047334..99049746,3	K562	blood:

Variant related genes	Relation type
CPSF4	TF binding region
ENSG00000130429	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1011024	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10155966	0.92[CEU][hapmap];0.80[AMR][1000 genomes]
rs10238965	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10243678	0.92[CEU][hapmap];0.80[AMR][1000 genomes]
rs10244158	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10253937	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10254729	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10258757	0.92[CEU][hapmap]
rs10270459	0.92[CEU][hapmap];0.80[AMR][1000 genomes]
rs10270917	0.92[CEU][hapmap]
rs10271049	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10271582	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10272998	0.92[CEU][hapmap]
rs10279308	0.84[CEU][hapmap]
rs1043466	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10464604	0.83[ASN][1000 genomes]
rs11539770	0.83[ASN][1000 genomes]
rs11762273	0.92[CEU][hapmap]
rs11976018	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11978089	0.85[CEU][hapmap]
rs12538826	0.84[ASN][1000 genomes]
rs13227795	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13240600	0.92[CEU][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13437771	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1980307	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2003499	0.84[CEU][hapmap]
rs2072181	0.92[CEU][hapmap];0.80[AMR][1000 genomes]
rs2240384	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2240385	0.83[ASN][1000 genomes]
rs2272168	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2280600	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2280601	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2286162	0.92[CEU][hapmap]
rs2404324	0.93[EUR][1000 genomes]
rs28457808	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28495024	0.81[AMR][1000 genomes]
rs3137	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34777615	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3779354	0.98[ASN][1000 genomes]
rs3801288	0.92[CEU][hapmap]
rs3843540	0.92[CEU][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3901286	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs45492098	0.82[ASN][1000 genomes]
rs45540134	0.85[ASN][1000 genomes]
rs45622743	0.84[ASN][1000 genomes]
rs4729532	0.84[CEU][hapmap]
rs58222677	0.82[ASN][1000 genomes]
rs61159815	0.84[ASN][1000 genomes]
rs6943920	0.92[CEU][hapmap]
rs6955490	0.84[CEU][hapmap]
rs6961634	0.92[CEU][hapmap]
rs6962772	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7794682	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7794705	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7804551	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs917154	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs940336	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99038000-99054600	Weak transcription	Stomach Mucosa	stomach
2	chr7:99038000-99061600	Strong transcription	Fetal Stomach	stomach
3	chr7:99038200-99056200	Weak transcription	Fetal Heart	heart
4	chr7:99038200-99061800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr7:99038200-99061800	Strong transcription	Fetal Intestine Small	intestine
6	chr7:99038200-99062000	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr7:99038200-99062000	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr7:99038200-99062400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:99038400-99062400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:99038600-99058000	Strong transcription	NHEK	skin
11	chr7:99038600-99058600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:99038600-99062400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:99038800-99058000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:99039000-99055000	Strong transcription	Placenta	Placenta
15	chr7:99039000-99059000	Strong transcription	Fetal Intestine Large	intestine
16	chr7:99039200-99049200	Strong transcription	Hela-S3	cervix
17	chr7:99039200-99054000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:99039200-99058000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:99039200-99058000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:99039200-99058200	Strong transcription	Dnd41	blood
21	chr7:99039200-99061600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr7:99039400-99059600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:99039600-99058000	Strong transcription	HMEC	breast
24	chr7:99039600-99062000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:99039800-99054400	Weak transcription	Right Atrium	heart
26	chr7:99040000-99058400	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr7:99040000-99058600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:99040000-99059000	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr7:99040000-99060600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:99040200-99049600	Strong transcription	Fetal Muscle Trunk	muscle
31	chr7:99040200-99058200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:99040200-99059400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr7:99040200-99059400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:99040400-99049400	Strong transcription	Fetal Muscle Leg	muscle
35	chr7:99040400-99058200	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr7:99040400-99058400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:99040400-99058400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:99040400-99058600	Strong transcription	H9 Cell Line	embryonic stem cell
39	chr7:99040400-99058600	Strong transcription	Fetal Lung	lung
40	chr7:99040400-99059000	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr7:99040400-99059600	Strong transcription	Primary T cells from cord blood	blood
42	chr7:99040400-99060800	Strong transcription	Duodenum Mucosa	Duodenum
43	chr7:99040400-99062000	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr7:99040600-99048200	Strong transcription	Adipose Nuclei	Adipose
45	chr7:99040600-99057200	Strong transcription	Ovary	ovary
46	chr7:99040600-99058400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr7:99040800-99055000	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr7:99040800-99062000	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr7:99041000-99049800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr7:99041000-99053000	Strong transcription	HSMMtube	muscle

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