Variant report

Variant	rs73315158
Chromosome Location	chr8:121456734-121456735
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:62)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:62 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	WRNIP1	chr8:121456486-121458019	GM12878	blood:	n/a	n/a
2	MAX	chr8:121456666-121458014	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr8:121456612-121457969	K562	blood:	n/a	n/a
4	POLR2A	chr8:121456590-121457912	HCT-116	colon:	n/a	n/a
5	POLR2A	chr8:121456557-121457970	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr8:121456615-121457953	K562	blood:	n/a	n/a
7	MYC	chr8:121456605-121456906	MCF10A-Er-Src	breast:	n/a	n/a
8	SPI1	chr8:121456416-121456915	HL-60	blood:	n/a	n/a
9	FOS	chr8:121456577-121456821	MCF10A-Er-Src	breast:	n/a	n/a
10	TBP	chr8:121456526-121457900	K562	blood:	n/a	chr8:121457515-121457526
11	POLR2A	chr8:121456651-121457903	K562	blood:	n/a	n/a
12	POLR2A	chr8:121456497-121458078	SK-N-MC	brain:	n/a	n/a
13	POLR2A	chr8:121456672-121456890	GM12891	blood:	n/a	n/a
14	MXI1	chr8:121456683-121457854	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr8:121455980-121457915	MCF10A-Er-Src	breast:	n/a	n/a
16	TAF1	chr8:121456553-121457976	Hela-S3	cervix:	n/a	n/a
17	FOS	chr8:121456610-121456762	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr8:121456712-121457891	H1-neurons	neurons:	n/a	n/a
19	POLR2A	chr8:121456710-121456956	MCF-7	breast:	n/a	n/a
20	POLR2A	chr8:121456589-121457987	Raji	blood:	n/a	n/a
21	POLR2A	chr8:121456548-121458010	GM12878	blood:	n/a	n/a
22	POLR2A	chr8:121456593-121457984	GM12878	blood:	n/a	n/a
23	POLR2A	chr8:121456653-121457920	K562	blood:	n/a	n/a
24	MYBL2	chr8:121456668-121457751	HepG2	liver:	n/a	n/a
25	MYC	chr8:121456528-121456844	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr8:121456579-121458042	HepG2	liver:	n/a	n/a
27	RCOR1	chr8:121456600-121456826	K562	blood:	n/a	n/a
28	POLR2A	chr8:121456625-121457931	K562	blood:	n/a	n/a
29	POLR2A	chr8:121456425-121458024	PBDE	blood:	n/a	n/a
30	POLR2A	chr8:121456508-121458052	K562	blood:	n/a	n/a
31	STAT3	chr8:121456505-121456884	MCF10A-Er-Src	breast:	n/a	n/a
32	GABPA	chr8:121456697-121458147	A549	lung:	n/a	n/a
33	POLR2A	chr8:121456588-121457942	GM18505	blood:	n/a	n/a
34	TAF1	chr8:121456694-121457844	A549	lung:	n/a	n/a
35	FOS	chr8:121456567-121456825	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr8:121456675-121458021	HL-60	blood:	n/a	n/a
37	MXI1	chr8:121456282-121457892	GM12878	blood:	n/a	n/a
38	POLR2A	chr8:121456248-121458061	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr8:121456574-121457988	GM12892	blood:	n/a	n/a
40	POLR2A	chr8:121456576-121457891	GM12878	blood:	n/a	n/a
41	POLR2A	chr8:121456704-121457923	GM12892	blood:	n/a	n/a
42	MYC	chr8:121456616-121457889	K562	blood:	n/a	n/a
43	POLR2A	chr8:121456715-121458006	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr8:121456635-121457909	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr8:121456418-121458012	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr8:121456392-121457888	HL-60	blood:	n/a	n/a
47	TBP	chr8:121456548-121456910	Hela-S3	cervix:	n/a	n/a
48	REST	chr8:121456702-121458178	H1-neurons	neurons:	n/a	chr8:121457430-121457439
49	POLR2A	chr8:121456475-121458132	GM12891	blood:	n/a	n/a
50	HCFC1	chr8:121456654-121458709	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120866790..120869291-chr8:121456136..121458268,2	MCF-7	breast:

No data

Variant related genes	Relation type
MTBP	TF binding region
ENSG00000136982	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs16893921	0.84[AFR][1000 genomes]
rs16893924	0.80[AFR][1000 genomes]
rs60062153	0.92[AFR][1000 genomes]
rs73315116	0.92[AFR][1000 genomes]
rs73315127	0.92[AFR][1000 genomes]
rs73315145	0.92[AFR][1000 genomes]
rs73315155	1.00[AFR][1000 genomes]
rs73315178	0.92[AFR][1000 genomes]
rs73315186	0.92[AFR][1000 genomes]
rs73315188	0.92[AFR][1000 genomes]
rs73331032	0.80[AFR][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	nsv891420	chr8:121194900-121561369	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1033386	chr8:121369943-121501239	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv470235	chr8:121437222-121526747	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 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	chr8:121455000-121458600	Active TSS	GM12878-XiMat	blood
2	chr8:121455800-121456800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:121455800-121456800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:121455800-121456800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:121455800-121456800	Flanking Active TSS	HUVEC	blood vessel
6	chr8:121455800-121457000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:121455800-121458200	Active TSS	Aorta	Aorta
8	chr8:121455800-121458800	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr8:121456000-121456800	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr8:121456000-121456800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr8:121456000-121456800	Flanking Active TSS	Brain Substantia Nigra	brain
12	chr8:121456000-121456800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr8:121456000-121456800	Flanking Active TSS	NH-A	brain
14	chr8:121456000-121457000	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr8:121456000-121458000	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr8:121456000-121458200	Active TSS	Colonic Mucosa	Colon
17	chr8:121456000-121458400	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr8:121456000-121458400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:121456000-121458400	Active TSS	Ovary	ovary
20	chr8:121456000-121458400	Active TSS	Psoas Muscle	Psoas
21	chr8:121456000-121458400	Active TSS	Right Atrium	heart
22	chr8:121456000-121458400	Active TSS	Stomach Smooth Muscle	stomach
23	chr8:121456000-121458600	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr8:121456000-121458600	Active TSS	A549	lung
25	chr8:121456000-121458800	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr8:121456200-121456800	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr8:121456200-121456800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:121456200-121456800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr8:121456200-121456800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:121456200-121456800	Flanking Active TSS	Liver	Liver
31	chr8:121456200-121456800	Flanking Active TSS	Brain Anterior Caudate	brain
32	chr8:121456200-121456800	Active TSS	HepG2	liver
33	chr8:121456200-121456800	Flanking Active TSS	Osteobl	bone
34	chr8:121456200-121457000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr8:121456200-121457000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:121456200-121457000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr8:121456200-121457200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr8:121456200-121457800	Active TSS	HSMMtube	muscle
39	chr8:121456200-121458000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:121456200-121458200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr8:121456200-121458200	Active TSS	Brain Angular Gyrus	brain
42	chr8:121456200-121458200	Active TSS	Fetal Lung	lung
43	chr8:121456200-121458200	Active TSS	NHDF-Ad	bronchial
44	chr8:121456200-121458400	Active TSS	Muscle Satellite Cultured Cells	--
45	chr8:121456200-121458400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr8:121456200-121458400	Active TSS	Fetal Intestine Large	intestine
47	chr8:121456200-121458400	Active TSS	Fetal Intestine Small	intestine
48	chr8:121456200-121458400	Active TSS	HMEC	breast
49	chr8:121456200-121458600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:121456200-121458600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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