Variant report

Variant	rs73216629
Chromosome Location	chr8:19540136-19540137
allele	G/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	FOS	chr8:19539778-19540389	MCF10A-Er-Src	breast:	n/a	n/a
2	MYC	chr8:19539623-19540360	MCF10A-Er-Src	breast:	n/a	n/a
3	GATA3	chr8:19540096-19540750	SH-SY5Y	brain:	n/a	chr8:19540311-19540328 chr8:19540320-19540329
4	FOS	chr8:19539888-19540379	MCF10A-Er-Src	breast:	n/a	n/a
5	E2F4	chr8:19540037-19540264	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr8:19540011-19540590	Hela-S3	cervix:	n/a	n/a
7	STAT3	chr8:19539850-19540504	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr8:19538316-19541049	IMR90	lung:	n/a	n/a
9	POLR2A	chr8:19539605-19540431	MCF10A-Er-Src	breast:	n/a	n/a
10	MYC	chr8:19539698-19540451	MCF10A-Er-Src	breast:	n/a	n/a
11	STAT3	chr8:19539936-19540445	MCF10A-Er-Src	breast:	n/a	n/a
12	STAT3	chr8:19539843-19540447	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr8:19539566-19540417	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr8:19539691-19540395	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr8:19539699-19540394	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr8:19539981-19540476	U87	brain:	n/a	n/a
17	CEBPB	chr8:19539966-19540528	IMR90	lung:	n/a	chr8:19540132-19540143
18	GATA2	chr8:19539931-19540976	SH-SY5Y	brain:	n/a	chr8:19540311-19540328 chr8:19540320-19540329
19	STAT3	chr8:19539884-19540435	MCF10A-Er-Src	breast:	n/a	n/a
20	RAD21	chr8:19539714-19540478	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19535486..19538060-chr8:19539195..19541920,3	K562	blood:
2	chr8:19535666..19538060-chr8:19539355..19541920,2	K562	blood:

Variant related genes	Relation type
CSGALNACT1	TF binding region
ENSG00000253270	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs13275011	0.89[EUR][1000 genomes]
rs55651857	0.86[EUR][1000 genomes]
rs55659028	0.86[EUR][1000 genomes]
rs73214687	0.89[EUR][1000 genomes]
rs73214696	0.96[EUR][1000 genomes]
rs73214697	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73214699	0.96[EUR][1000 genomes]
rs73214700	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73216603	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73216609	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73216614	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73216622	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73216633	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73216634	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73216635	1.00[EUR][1000 genomes]
rs73216639	1.00[EUR][1000 genomes]
rs73216646	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv948861	chr8:19199688-19609029	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv890627	chr8:19389865-19561997	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1021575	chr8:19430653-19623452	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1025271	chr8:19435147-19574969	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv6106	chr8:19499554-19544249	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1021731	chr8:19515149-19643313	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv890628	chr8:19527536-19540966	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv465602	chr8:19536015-19555398	Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv610757	chr8:19536015-19555398	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv465603	chr8:19537084-19555398	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv465604	chr8:19537084-19555398	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv465606	chr8:19537084-19555398	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv465607	chr8:19537084-19555398	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv470203	chr8:19537084-19555398	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv610758	chr8:19537084-19555398	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19523800-19540200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:19528600-19540200	Weak transcription	Spleen	Spleen
3	chr8:19536200-19540800	Enhancers	Pancreas	Pancrea
4	chr8:19536400-19543600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr8:19537400-19540200	Enhancers	Hela-S3	cervix
6	chr8:19537600-19540200	Weak transcription	Brain Substantia Nigra	brain
7	chr8:19537600-19541000	Genic enhancers	A549	lung
8	chr8:19538000-19540200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:19538400-19541200	Enhancers	Fetal Heart	heart
10	chr8:19538400-19541400	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr8:19538600-19540600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr8:19538600-19541000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr8:19538800-19540400	Enhancers	Esophagus	oesophagus
14	chr8:19538800-19540600	Enhancers	Fetal Thymus	thymus
15	chr8:19538800-19540600	Enhancers	Gastric	stomach
16	chr8:19538800-19540800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr8:19538800-19540800	Enhancers	Lung	lung
18	chr8:19538800-19541000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr8:19538800-19541000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr8:19538800-19541000	Enhancers	HMEC	breast
21	chr8:19539000-19540400	Enhancers	Stomach Mucosa	stomach
22	chr8:19539000-19540600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:19539000-19540600	Enhancers	Thymus	Thymus
24	chr8:19539000-19540800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr8:19539000-19540800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr8:19539000-19540800	Enhancers	Ovary	ovary
27	chr8:19539000-19541000	Enhancers	Primary T cells fromperipheralblood	blood
28	chr8:19539000-19541600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr8:19539200-19540400	Genic enhancers	Primary B cells from peripheral blood	blood
30	chr8:19539200-19540400	Enhancers	Aorta	Aorta
31	chr8:19539200-19540400	Enhancers	Fetal Muscle Trunk	muscle
32	chr8:19539200-19540600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr8:19539200-19540600	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr8:19539200-19540600	Enhancers	NHLF	lung
35	chr8:19539200-19541000	Enhancers	Fetal Brain Female	brain
36	chr8:19539200-19542200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:19539400-19540200	Flanking Active TSS	Osteobl	bone
38	chr8:19539400-19540600	Enhancers	Brain Angular Gyrus	brain
39	chr8:19539400-19540800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:19539400-19540800	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr8:19539400-19540800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr8:19539400-19552000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr8:19539600-19540200	Weak transcription	Fetal Brain Male	brain
44	chr8:19539600-19540200	Active TSS	Right Ventricle	heart
45	chr8:19539600-19540800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:19539600-19540800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr8:19539600-19541000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr8:19539600-19541000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr8:19539600-19541200	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr8:19539600-19541400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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