Variant report

Variant	rs10249167
Chromosome Location	chr7:98980879-98980880
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PML	chr7:98980873-98982039	GM12878	blood:	n/a	n/a
2	STAT5A	chr7:98980756-98982600	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:98980835-98982546	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr7:98980788-98981151	HepG2	liver:	n/a	n/a
5	POLR2A	chr7:98980794-98982466	GM19193	blood:	n/a	n/a
6	POLR2A	chr7:98980673-98980986	K562	blood:	n/a	n/a
7	POLR2A	chr7:98980807-98982541	GM12891	blood:	n/a	n/a
8	POLR2A	chr7:98980865-98981122	GM12891	blood:	n/a	n/a
9	POLR2A	chr7:98980756-98982534	GM12892	blood:	n/a	n/a
10	POLR2A	chr7:98980876-98982482	GM18505	blood:	n/a	n/a
11	POLR2A	chr7:98980830-98982448	K562	blood:	n/a	n/a
12	POLR2A	chr7:98980800-98982513	GM12892	blood:	n/a	n/a
13	POLR2A	chr7:98980793-98981514	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr7:98980833-98982465	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr7:98980703-98982534	GM12878	blood:	n/a	n/a
16	ZKSCAN1	chr7:98980866-98981275	Hela-S3	cervix:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:98975447..98980936-chr7:99003746..99008536,8	MCF-7	breast:
2	chr7:98977857..98980973-chr7:99035179..99039094,4	MCF-7	breast:
3	chr7:98980782..98982462-chr7:99001543..99003886,2	MCF-7	breast:
4	chr7:98978155..98981581-chr7:99004279..99007902,6	MCF-7	breast:
5	chr7:98978815..98981136-chr7:98984654..98987297,2	MCF-7	breast:
6	chr7:98978195..98983060-chr7:98988487..98993755,6	MCF-7	breast:

No data

Variant related genes	Relation type
ARPC1B	TF binding region
ENSG00000106245	Chromatin interaction
ENSG00000160917	Chromatin interaction
ENSG00000106244	Chromatin interaction
ENSG00000130429	Chromatin interaction
ENSG00000106246	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10155966	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10236149	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10243678	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10255399	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10258757	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10267346	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10270459	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10270917	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10272998	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10274407	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10279308	0.82[EUR][1000 genomes]
rs10953287	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11762273	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11973460	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11978089	0.82[EUR][1000 genomes]
rs17161698	0.83[ASN][1000 genomes]
rs2003499	0.81[EUR][1000 genomes]
rs2057905	0.81[ASN][1000 genomes]
rs2057906	0.85[ASN][1000 genomes]
rs2072181	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2107922	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2286162	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2404322	0.83[ASN][1000 genomes]
rs2404323	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28457808	0.80[ASN][1000 genomes]
rs28495024	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28820905	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3801288	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6943920	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6953476	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6955490	0.82[EUR][1000 genomes]
rs6972337	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6975099	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs917154	0.80[ASN][1000 genomes]
rs9641253	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9768020	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv831068	chr7:98819572-99006481	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98971000-98990400	Weak transcription	Fetal Kidney	kidney
2	chr7:98973400-98984000	Weak transcription	Aorta	Aorta
3	chr7:98973400-98984200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:98973400-98984200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:98973400-98984200	Weak transcription	Ovary	ovary
6	chr7:98973400-98984400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr7:98973400-98987400	Weak transcription	Brain Germinal Matrix	brain
8	chr7:98973400-98987800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:98973400-98989800	Weak transcription	Brain Angular Gyrus	brain
10	chr7:98977800-98984000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr7:98977800-98984200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr7:98978000-98984200	Weak transcription	HSMMtube	muscle
13	chr7:98978000-98987000	Weak transcription	Small Intestine	intestine
14	chr7:98978200-98984000	Weak transcription	Fetal Lung	lung
15	chr7:98978200-98984200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr7:98978200-98989800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:98978400-98983200	Weak transcription	Fetal Intestine Large	intestine
18	chr7:98978400-98984000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr7:98978400-98984200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:98978400-98984200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr7:98978600-98983600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr7:98978600-98984400	Weak transcription	NH-A	brain
23	chr7:98978800-98985000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr7:98978800-98989000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:98979000-98982000	Strong transcription	Osteobl	bone
26	chr7:98979000-98983200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:98979000-98983200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:98979000-98984000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:98979000-98984000	Weak transcription	Brain Hippocampus Middle	brain
30	chr7:98979000-98984600	Genic enhancers	Primary monocytes fromperipheralblood	blood
31	chr7:98979000-98989600	Weak transcription	Stomach Mucosa	stomach
32	chr7:98979200-98981600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:98979200-98983000	Weak transcription	HMEC	breast
34	chr7:98979200-98983400	Genic enhancers	Primary B cells from cord blood	blood
35	chr7:98979200-98983400	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr7:98979200-98983800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr7:98979200-98984000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:98979200-98984000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr7:98979200-98984000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr7:98979200-98984200	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr7:98979200-98984200	Genic enhancers	Primary T cells fromperipheralblood	blood
42	chr7:98979200-98984400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr7:98979200-98987000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr7:98979200-98987000	Weak transcription	HSMM	muscle
45	chr7:98979200-98989600	Weak transcription	Brain Substantia Nigra	brain
46	chr7:98979400-98981000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:98979400-98981000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr7:98979400-98981200	Weak transcription	K562	blood
49	chr7:98979400-98983000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr7:98979400-98983000	Weak transcription	HUVEC	blood vessel

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