Variant report

Variant	rs72646331
Chromosome Location	chr8:48351927-48351928
allele	A/T
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	MEF2A	chr8:48351438-48352016	GM12878	blood:	n/a	n/a
2	FOS	chr8:48351606-48351964	MCF10A-Er-Src	breast:	n/a	n/a
3	PBX3	chr8:48351504-48351945	SK-N-SH	brain:	n/a	n/a
4	TCF12	chr8:48351557-48352046	SK-N-SH	brain:	n/a	n/a
5	STAT3	chr8:48351637-48351942	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr8:48351530-48351965	MCF10A-Er-Src	breast:	n/a	n/a
7	ATF2	chr8:48351488-48352019	GM12878	blood:	n/a	n/a
8	NFIC	chr8:48351463-48352041	GM12878	blood:	n/a	n/a
9	FOS	chr8:48351604-48351966	MCF10A-Er-Src	breast:	n/a	n/a
10	EBF1	chr8:48351600-48351995	GM12878	blood:	n/a	n/a
11	FOS	chr8:48351616-48351952	MCF10A-Er-Src	breast:	n/a	n/a
12	TCF12	chr8:48351435-48352045	SK-N-SH	brain:	n/a	n/a
13	EP300	chr8:48351668-48351990	GM12878	blood:	n/a	n/a
14	RUNX3	chr8:48351597-48352007	GM12878	blood:	n/a	n/a
15	MEF2A	chr8:48351525-48352015	GM12878	blood:	n/a	n/a
16	MYC	chr8:48351540-48351951	MCF10A-Er-Src	breast:	n/a	n/a
17	FOXM1	chr8:48351559-48351974	GM12878	blood:	n/a	n/a
18	STAT3	chr8:48351627-48351965	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48345796..48347342-chr8:48349198..48352084,2	MCF-7	breast:

Variant related genes	Relation type
SPIDR	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs55869763	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72644583	1.00[AMR][1000 genomes]
rs72644595	1.00[AMR][1000 genomes]
rs72646319	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72646345	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1034660	chr8:48265109-48411279	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1025674	chr8:48306843-48548862	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1023409	chr8:48320442-48454089	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv539595	chr8:48320442-48454089	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48310800-48354800	Weak transcription	Right Ventricle	heart
2	chr8:48311600-48353000	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr8:48312200-48353000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:48312800-48358600	Weak transcription	Thymus	Thymus
5	chr8:48312800-48367600	Weak transcription	Pancreas	Pancrea
6	chr8:48312800-48377000	Weak transcription	Esophagus	oesophagus
7	chr8:48313200-48361000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr8:48313400-48352800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr8:48323000-48354200	Weak transcription	Spleen	Spleen
10	chr8:48323000-48364400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr8:48326000-48366000	Weak transcription	Gastric	stomach
12	chr8:48326200-48354800	Weak transcription	HMEC	breast
13	chr8:48326200-48362600	Weak transcription	Colon Smooth Muscle	Colon
14	chr8:48328400-48362600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr8:48328600-48352200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr8:48328600-48352600	Weak transcription	Dnd41	blood
17	chr8:48328600-48361800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:48328600-48362400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:48328600-48364000	Weak transcription	Fetal Intestine Large	intestine
20	chr8:48328600-48371400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr8:48328600-48374600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr8:48334600-48352800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:48335000-48362400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:48335400-48363400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:48335600-48352400	Weak transcription	Primary B cells from cord blood	blood
26	chr8:48337800-48357000	Weak transcription	Primary B cells from peripheral blood	blood
27	chr8:48340200-48356800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr8:48340400-48364000	Weak transcription	Lung	lung
29	chr8:48340600-48365600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr8:48341600-48352200	Weak transcription	Brain Anterior Caudate	brain
31	chr8:48342000-48353000	Weak transcription	Right Atrium	heart
32	chr8:48342000-48362600	Weak transcription	Ovary	ovary
33	chr8:48342200-48372600	Weak transcription	Liver	Liver
34	chr8:48342600-48364000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr8:48342800-48355600	Weak transcription	Fetal Brain Female	brain
36	chr8:48343000-48354800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr8:48343800-48366800	Weak transcription	Aorta	Aorta
38	chr8:48343800-48371400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr8:48344000-48352000	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr8:48344000-48352600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr8:48344200-48355000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:48344200-48355800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:48344200-48363200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr8:48344400-48352000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:48344400-48353000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr8:48344400-48363200	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr8:48344800-48362800	Weak transcription	A549	lung
48	chr8:48345000-48369800	Weak transcription	NH-A	brain
49	chr8:48345000-48370600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr8:48346200-48362600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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