Variant report

Variant	rs73274035
Chromosome Location	chr7:19742539-19742540
allele	A/G
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	STAT3	chr7:19742120-19742559	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:19740820..19745529-chr7:19747045..19749777,5	MCF-7	breast:
2	chr7:19740790..19742645-chr7:19746038..19748708,3	MCF-7	breast:
3	chr11:11093304..11094946-chr7:19742471..19744480,2	K562	blood:

Variant related genes	Relation type
TWISTNB	TF binding region
ENSG00000105849	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11543308	0.82[ASN][1000 genomes]
rs17141796	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2390154	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3735616	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58056591	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58354969	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60221291	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60873763	0.84[ASN][1000 genomes]
rs60983452	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60986520	0.84[AMR][1000 genomes]
rs61052896	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66483938	0.84[AMR][1000 genomes]
rs66857203	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67008311	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67320494	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67480144	0.84[AMR][1000 genomes]
rs67667438	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6946719	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73076839	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73270117	0.84[AMR][1000 genomes]
rs73271905	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73271979	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73272001	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73274010	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73274011	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73274016	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73274017	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73274019	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73274022	0.84[ASN][1000 genomes]
rs73274023	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73274029	0.88[ASN][1000 genomes]
rs73274032	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73274033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73274039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9690343	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][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	nsv1018601	chr7:19272360-20008881	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1033223	chr7:19682192-20461375	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv538795	chr7:19682192-20461375	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv524807	chr7:19714156-19803925	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19729800-19745000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr7:19730400-19747400	Weak transcription	HSMMtube	muscle
3	chr7:19731000-19746000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:19731600-19746400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:19732200-19743400	Weak transcription	Esophagus	oesophagus
6	chr7:19732400-19745400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:19732600-19747000	Weak transcription	Pancreas	Pancrea
8	chr7:19733000-19745600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:19733000-19747400	Weak transcription	Spleen	Spleen
10	chr7:19733800-19747000	Weak transcription	Osteobl	bone
11	chr7:19733800-19747400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr7:19734000-19745600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr7:19734000-19746000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:19734000-19746600	Weak transcription	Fetal Lung	lung
15	chr7:19734200-19746000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr7:19734200-19746800	Weak transcription	Psoas Muscle	Psoas
17	chr7:19734400-19747000	Weak transcription	Fetal Muscle Leg	muscle
18	chr7:19734400-19747400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr7:19734600-19746400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:19734800-19747000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr7:19734800-19748000	Weak transcription	Lung	lung
22	chr7:19735400-19744600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr7:19735400-19746000	Weak transcription	Fetal Brain Female	brain
24	chr7:19735400-19746400	Weak transcription	HMEC	breast
25	chr7:19735400-19747000	Weak transcription	Right Ventricle	heart
26	chr7:19735400-19747200	Weak transcription	Fetal Heart	heart
27	chr7:19735600-19744000	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr7:19735600-19745600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:19735600-19746800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr7:19735800-19746800	Weak transcription	Brain Angular Gyrus	brain
31	chr7:19735800-19747000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr7:19735800-19747000	Weak transcription	Small Intestine	intestine
33	chr7:19735800-19747000	Weak transcription	Thymus	Thymus
34	chr7:19735800-19747800	Weak transcription	Colonic Mucosa	Colon
35	chr7:19736000-19746600	Weak transcription	Brain Hippocampus Middle	brain
36	chr7:19736000-19748000	Weak transcription	Gastric	stomach
37	chr7:19736200-19747600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr7:19736400-19746600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr7:19736600-19743400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr7:19736600-19744000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr7:19736600-19744000	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr7:19736600-19745800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr7:19736600-19746800	Weak transcription	NHLF	lung
44	chr7:19736800-19742800	Strong transcription	Liver	Liver
45	chr7:19736800-19744000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:19736800-19746000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr7:19736800-19746400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr7:19736800-19746800	Weak transcription	Brain Substantia Nigra	brain
49	chr7:19737400-19747000	Weak transcription	Ovary	ovary
50	chr7:19737600-19745800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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