Variant report

Variant	rs73377063
Chromosome Location	chr9:2031220-2031221
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	chr9:2030908-2031346	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:2025445..2029095-chr9:2029321..2031633,5	K562	blood:
2	chr9:2017363..2019516-chr9:2029024..2032521,3	K562	blood:
3	chr9:2019923..2022306-chr9:2028801..2031582,2	K562	blood:
4	chr9:2016568..2019114-chr9:2030660..2033552,2	MCF-7	breast:
5	chr9:2015057..2017007-chr9:2029405..2032085,2	K562	blood:

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

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10964470	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16936764	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 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
18	nsv466071	chr9:2028757-2065892	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	nsv613082	chr9:2028757-2065892	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
20	nsv466073	chr9:2029018-2069765	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
21	nsv613083	chr9:2029018-2069765	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' 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:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2018200-2033400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:2019000-2032800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr9:2019000-2033200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr9:2019200-2032600	Weak transcription	A549	lung
5	chr9:2019200-2039400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr9:2019400-2032800	Weak transcription	Osteobl	bone
7	chr9:2019400-2033000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr9:2019400-2033200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr9:2020000-2033000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr9:2022000-2032200	Weak transcription	NHEK	skin
11	chr9:2023200-2032400	Weak transcription	Fetal Kidney	kidney
12	chr9:2023600-2033000	Weak transcription	Fetal Brain Female	brain
13	chr9:2023800-2032400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr9:2024000-2039400	Weak transcription	Stomach Mucosa	stomach
15	chr9:2024800-2032400	Weak transcription	Hela-S3	cervix
16	chr9:2025000-2033000	Weak transcription	HSMMtube	muscle
17	chr9:2025200-2033000	Weak transcription	Thymus	Thymus
18	chr9:2025200-2044600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr9:2025400-2033000	Weak transcription	Colonic Mucosa	Colon
20	chr9:2025400-2044000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr9:2025600-2032600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr9:2025600-2033000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr9:2025600-2033000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr9:2025600-2040000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr9:2025600-2041200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr9:2025800-2032400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr9:2025800-2033000	Weak transcription	Fetal Thymus	thymus
28	chr9:2025800-2033000	Weak transcription	HepG2	liver
29	chr9:2025800-2043600	Weak transcription	Fetal Heart	heart
30	chr9:2026000-2033000	Weak transcription	Fetal Intestine Small	intestine
31	chr9:2026000-2037400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr9:2026000-2047400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr9:2026200-2031600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr9:2026200-2031600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr9:2026200-2032400	Weak transcription	Fetal Intestine Large	intestine
36	chr9:2026200-2033000	Weak transcription	Aorta	Aorta
37	chr9:2027000-2032000	Weak transcription	Dnd41	blood
38	chr9:2027600-2031800	Enhancers	K562	blood
39	chr9:2027800-2032400	Weak transcription	Fetal Muscle Trunk	muscle
40	chr9:2028000-2031400	Weak transcription	Brain Germinal Matrix	brain
41	chr9:2028000-2031600	Weak transcription	Ovary	ovary
42	chr9:2028000-2031800	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr9:2028000-2032000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr9:2028000-2032200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr9:2028000-2032400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr9:2028000-2032400	Weak transcription	Spleen	Spleen
47	chr9:2028000-2033000	Weak transcription	Gastric	stomach
48	chr9:2028000-2040000	Weak transcription	HMEC	breast
49	chr9:2028200-2031600	Weak transcription	HUVEC	blood vessel
50	chr9:2028200-2032400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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