Variant report

Variant	rs10757122
Chromosome Location	chr9:2024639-2024640
allele	C/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	POLR2A	chr9:2024201-2026419	GM12878	blood:	n/a	n/a
2	WRNIP1	chr9:2023524-2024834	GM12878	blood:	n/a	n/a
3	POLR2A	chr9:2022326-2026401	GM12891	blood:	n/a	n/a
4	POLR2A	chr9:2024515-2025343	GM12892	blood:	n/a	n/a
5	POLR2A	chr9:2022880-2025626	GM12878	blood:	n/a	n/a
6	POLR2A	chr9:2024559-2024902	GM12892	blood:	n/a	n/a
7	POLR2A	chr9:2024507-2025119	GM12891	blood:	n/a	n/a
8	GATA1	chr9:2022779-2024940	PBDE	blood:	n/a	chr9:2023892-2023908 chr9:2023684-2023694 chr9:2023896-2023903 chr9:2023896-2023903 chr9:2023896-2023903
9	IRF1	chr9:2023448-2024730	K562	blood:	n/a	chr9:2023660-2023674 chr9:2024168-2024181 chr9:2023661-2023674
10	POLR2A	chr9:2022614-2026438	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:2016219..2019918-chr9:2022215..2026324,5	MCF-7	breast:

Variant related genes	Relation type
SMARCA2	TF binding region
ENSG00000080503	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10964447	0.86[CHB][hapmap]
rs10964457	0.94[CEU][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10964458	0.94[CEU][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10964461	0.86[CHB][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs10964465	1.00[ASW][hapmap];0.94[CEU][hapmap];0.83[CHD][hapmap];0.80[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.85[YRI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10964466	1.00[ASW][hapmap];0.83[CEU][hapmap];0.86[CHD][hapmap];0.87[GIH][hapmap];0.84[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs10964471	0.83[CHD][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];0.90[MEX][hapmap]
rs10964502	1.00[MEX][hapmap]
rs10964507	0.83[CEU][hapmap]
rs1999979	0.90[LWK][hapmap]
rs72687569	0.83[EUR][1000 genomes]
rs72687570	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72687571	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs72687572	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016148	chr9:1457605-2361750	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv539916	chr9:1457605-2361750	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1021712	chr9:1647840-2216839	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv539921	chr9:1647840-2216839	Bivalent Enhancer Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1020530	chr9:1870197-2658587	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv831493	chr9:1885733-2074135	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv892048	chr9:1888703-2177391	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1021158	chr9:1963930-2040728	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv892052	chr9:1980819-2072470	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	esv2830420	chr9:1998911-2119702	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv530929	chr9:1998911-2925112	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
12	nsv613079	chr9:2012767-2059341	Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv466069	chr9:2018825-2066493	Strong transcription Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv613080	chr9:2018825-2066493	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv466070	chr9:2024639-2044721	Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv613081	chr9:2024639-2044721	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv892053	chr9:2024639-2062014	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr9:2018000-2028200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr9:2018200-2033400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:2018400-2027200	Weak transcription	Esophagus	oesophagus
4	chr9:2019000-2032800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr9:2019000-2033200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr9:2019200-2032600	Weak transcription	A549	lung
7	chr9:2019200-2039400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr9:2019400-2025000	Weak transcription	Colonic Mucosa	Colon
9	chr9:2019400-2025400	Weak transcription	HepG2	liver
10	chr9:2019400-2025800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr9:2019400-2027600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr9:2019400-2030000	Enhancers	Adipose Nuclei	Adipose
13	chr9:2019400-2030400	Enhancers	Colon Smooth Muscle	Colon
14	chr9:2019400-2030800	Weak transcription	NHDF-Ad	bronchial
15	chr9:2019400-2032800	Weak transcription	Osteobl	bone
16	chr9:2019400-2033000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr9:2019400-2033200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr9:2019800-2026400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr9:2020000-2024800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr9:2020000-2033000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr9:2020400-2028800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr9:2021200-2026200	Enhancers	Brain Cingulate Gyrus	brain
23	chr9:2021400-2025800	Enhancers	Fetal Thymus	thymus
24	chr9:2021400-2026200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr9:2021400-2026200	Enhancers	Liver	Liver
26	chr9:2021400-2028400	Enhancers	Primary T cells fromperipheralblood	blood
27	chr9:2021600-2025600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr9:2021600-2026000	Enhancers	Brain Hippocampus Middle	brain
29	chr9:2021600-2028200	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr9:2021800-2025800	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr9:2021800-2027400	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr9:2022000-2025000	Enhancers	HUVEC	blood vessel
33	chr9:2022000-2026400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr9:2022000-2027200	Enhancers	Rectal Smooth Muscle	rectum
35	chr9:2022000-2032200	Weak transcription	NHEK	skin
36	chr9:2022200-2025600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
37	chr9:2022200-2028600	Enhancers	Placenta Amnion	Placenta Amnion
38	chr9:2022200-2029600	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr9:2022400-2025000	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr9:2022400-2028200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr9:2022600-2025800	Enhancers	Fetal Heart	heart
42	chr9:2022600-2026000	Enhancers	Primary B cells from cord blood	blood
43	chr9:2022800-2025400	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr9:2022800-2025800	Enhancers	Brain Substantia Nigra	brain
45	chr9:2022800-2025800	Flanking Active TSS	K562	blood
46	chr9:2022800-2026200	Enhancers	Ovary	ovary
47	chr9:2022800-2026200	Enhancers	Psoas Muscle	Psoas
48	chr9:2022800-2026200	Enhancers	Right Ventricle	heart
49	chr9:2022800-2029200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr9:2023000-2025400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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