Variant report

Variant	rs3107195
Chromosome Location	chr8:124253985-124253986
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr8:124253317-124254016	K562	blood:	n/a	n/a
2	POLR2A	chr8:124253975-124254149	HepG2	liver:	n/a	n/a
3	TCF12	chr8:124253058-124254012	ECC-1	luminal epithelium:	n/a	n/a
4	SREBP1	chr8:124253239-124254070	GM12878	blood:	n/a	n/a
5	GABPA	chr8:124253002-124254081	MCF-7	breast:	n/a	n/a
6	GTF3C2	chr8:124253137-124254409	K562	blood:	n/a	n/a
7	NR2F2	chr8:124253031-124254044	K562	blood:	n/a	n/a
8	TEAD4	chr8:124252949-124254000	K562	blood:	n/a	n/a
9	SIX5	chr8:124253257-124254005	A549	lung:	n/a	chr8:124253670-124253679 chr8:124253668-124253677
10	GATA3	chr8:124253002-124254115	MCF-7	breast:	n/a	n/a
11	GABPA	chr8:124253271-124254018	SK-N-SH	brain:	n/a	n/a
12	GATA2	chr8:124253168-124254030	SH-SY5Y	brain:	n/a	n/a
13	GABPA	chr8:124253026-124254005	A549	lung:	n/a	n/a
14	GATA3	chr8:124253429-124254025	SK-N-SH	brain:	n/a	n/a
15	PML	chr8:124253063-124254008	K562	blood:	n/a	n/a
16	POLR2A	chr8:124252889-124254157	K562	blood:	n/a	n/a
17	SRF	chr8:124252399-124254013	MCF-7	breast:	n/a	n/a
18	GATA3	chr8:124252896-124254157	A549	lung:	n/a	n/a
19	ELF1	chr8:124253205-124254053	MCF-7	breast:	n/a	chr8:124253605-124253618 chr8:124253616-124253628
20	GATA3	chr8:124252828-124254180	MCF-7	breast:	n/a	n/a
21	MXI1	chr8:124251987-124254070	SK-N-SH	brain:	n/a	n/a
22	ELF1	chr8:124252955-124254074	HCT-116	colon:	n/a	chr8:124253605-124253618 chr8:124253616-124253628
23	POLR2A	chr8:124252219-124254059	PFSK-1	brain:	n/a	n/a
24	POLR2A	chr8:124252634-124253995	PFSK-1	brain:	n/a	n/a
25	GATA3	chr8:124253319-124254033	SK-N-SH	brain:	n/a	n/a
26	SIN3AK20	chr8:124252255-124254166	MCF-7	breast:	n/a	n/a
27	HCFC1	chr8:124252191-124254122	Hela-S3	cervix:	n/a	n/a
28	NR2F2	chr8:124253063-124254090	MCF-7	breast:	n/a	n/a
29	POLR2A	chr8:124253146-124254001	K562	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:124251904..124255350-chr8:124283702..124287510,7	MCF-7	breast:
2	chr8:124252240..124256259-chr8:124279136..124282026,3	MCF-7	breast:
3	chr8:124250772..124255194-chr8:124284813..124288648,11	K562	blood:
4	chr8:124252177..124254741-chr8:124300569..124303262,2	MCF-7	breast:
5	chr8:124051745..124054719-chr8:124252777..124254835,2	MCF-7	breast:
6	chr8:124251434..124255040-chr8:124407167..124409699,3	MCF-7	breast:
7	chr8:124242969..124246444-chr8:124250871..124254572,7	K562	blood:
8	chr8:124250772..124256316-chr8:124284832..124288905,10	K562	blood:
9	chr8:124253290..124255259-chr8:124427452..124430915,4	MCF-7	breast:
10	chr8:124193513..124196464-chr8:124251453..124254770,3	MCF-7	breast:
11	chr8:124252875..124255334-chr8:124406882..124408713,2	K562	blood:
12	chr8:124253700..124257884-chr8:124258396..124261295,6	K562	blood:

No data

Variant related genes	Relation type
C8orf76	TF binding region
ENSG00000136986	Chromatin interaction
ENSG00000156795	Chromatin interaction
ENSG00000253258	Chromatin interaction
ENSG00000259305	Chromatin interaction
ENSG00000156802	Chromatin interaction
ENSG00000147689	Chromatin interaction
ENSG00000165156	Chromatin interaction
ENSG00000156787	Chromatin interaction
ENSG00000189376	Chromatin interaction
ENSG00000253336	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs3107196	1.00[AMR][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	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124252000-124254000	Active TSS	Hela-S3	cervix
2	chr8:124252000-124254000	Active TSS	NHLF	lung
3	chr8:124252000-124254000	Active TSS	Osteobl	bone
4	chr8:124252200-124254000	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr8:124252200-124254000	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr8:124252200-124254000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:124252200-124254000	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr8:124252200-124254000	Active TSS	Right Atrium	heart
9	chr8:124252200-124254000	Active TSS	Stomach Smooth Muscle	stomach
10	chr8:124252400-124254000	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr8:124252400-124254000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:124252400-124254000	Active TSS	Left Ventricle	heart
13	chr8:124252400-124254000	Active TSS	Right Ventricle	heart
14	chr8:124252600-124254000	Active TSS	H1 Cell Line	embryonic stem cell
15	chr8:124252600-124254000	Active TSS	H9 Cell Line	embryonic stem cell
16	chr8:124252600-124254000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:124252600-124254000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:124252600-124254000	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr8:124252600-124254000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:124252600-124254000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:124252600-124254000	Active TSS	Muscle Satellite Cultured Cells	--
22	chr8:124252600-124254000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:124252600-124254000	Active TSS	Brain Cingulate Gyrus	brain
24	chr8:124252600-124254000	Active TSS	Brain Hippocampus Middle	brain
25	chr8:124252600-124254000	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr8:124252600-124254000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr8:124252600-124254000	Active TSS	Brain Substantia Nigra	brain
28	chr8:124252600-124254000	Active TSS	Fetal Intestine Small	intestine
29	chr8:124252600-124254000	Active TSS	Placenta	Placenta
30	chr8:124252600-124254000	Active TSS	Fetal Stomach	stomach
31	chr8:124252600-124254000	Active TSS	Ovary	ovary
32	chr8:124252600-124254000	Active TSS	Psoas Muscle	Psoas
33	chr8:124252600-124254000	Active TSS	HMEC	breast
34	chr8:124252600-124254000	Active TSS	HSMMtube	muscle
35	chr8:124252600-124254000	Active TSS	K562	blood
36	chr8:124252800-124254000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:124252800-124254000	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr8:124252800-124254000	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr8:124252800-124254000	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr8:124252800-124254000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr8:124252800-124254000	Active TSS	Brain Angular Gyrus	brain
42	chr8:124252800-124254000	Active TSS	Brain Anterior Caudate	brain
43	chr8:124252800-124254000	Active TSS	Duodenum Mucosa	Duodenum
44	chr8:124252800-124254000	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr8:124252800-124254000	Active TSS	Fetal Brain Female	brain
46	chr8:124252800-124254000	Active TSS	Fetal Kidney	kidney
47	chr8:124252800-124254000	Active TSS	Fetal Muscle Leg	muscle
48	chr8:124252800-124254000	Active TSS	Pancreas	Pancrea
49	chr8:124252800-124254000	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr8:124252800-124254000	Active TSS	Thymus	Thymus

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