Variant report

Variant	rs73120838
Chromosome Location	chr5:74822861-74822862
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74815294..74818982-chr5:74820247..74823584,4	K562	blood:
2	chr5:74805305..74807843-chr5:74822655..74824255,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113163	Chromatin interaction
ENSG00000122008	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs17238477	1.00[AMR][1000 genomes]
rs57057408	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5744586	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5744600	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5744634	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5744646	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5744664	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5744687	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5744701	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5744708	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5744725	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57818448	1.00[AMR][1000 genomes]
rs59629012	1.00[AMR][1000 genomes]
rs60835393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73118884	1.00[AMR][1000 genomes]
rs73118895	1.00[AMR][1000 genomes]
rs73118896	1.00[AMR][1000 genomes]
rs73118899	1.00[AMR][1000 genomes]
rs73120827	1.00[AMR][1000 genomes]
rs73120840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73120841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73120845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73122736	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73122748	0.84[AFR][1000 genomes];1.00[AMR][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	nsv882193	chr5:74656175-74917862	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv882194	chr5:74656175-74946455	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv882195	chr5:74678937-74896798	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv882196	chr5:74678937-74917862	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv882197	chr5:74692776-74946455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS 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	13 gene(s)	inside rSNPs	diseases
6	nsv882198	chr5:74736065-74896798	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv882199	chr5:74757758-74946455	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv882200	chr5:74781439-74830808	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	nsv882201	chr5:74787310-74890618	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
11	nsv882202	chr5:74808417-74946455	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	esv3385195	chr5:74810245-74843686	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv882203	chr5:74811497-74832919	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv882204	chr5:74811497-74856142	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv882205	chr5:74811497-74862921	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	nsv598674	chr5:74816849-74831498	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv598675	chr5:74816849-74831615	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74808800-74849600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr5:74809400-74830600	Weak transcription	Fetal Kidney	kidney
3	chr5:74809600-74830200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:74809600-74839400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr5:74810400-74862400	Weak transcription	Hela-S3	cervix
6	chr5:74815000-74832200	Weak transcription	Right Ventricle	heart
7	chr5:74817600-74831800	Weak transcription	Dnd41	blood
8	chr5:74818000-74825000	Weak transcription	Psoas Muscle	Psoas
9	chr5:74818000-74827000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:74818000-74827400	Weak transcription	Ovary	ovary
11	chr5:74818000-74827600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:74818000-74828000	Weak transcription	Fetal Lung	lung
13	chr5:74818000-74829000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:74818000-74829200	Weak transcription	Fetal Stomach	stomach
15	chr5:74818000-74830400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr5:74818000-74830400	Weak transcription	Liver	Liver
17	chr5:74818000-74830600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:74818000-74832000	Weak transcription	Fetal Thymus	thymus
19	chr5:74818000-74832000	Weak transcription	Lung	lung
20	chr5:74818000-74832000	Weak transcription	Pancreas	Pancrea
21	chr5:74818000-74832200	Weak transcription	Esophagus	oesophagus
22	chr5:74818000-74832200	Weak transcription	HSMM	muscle
23	chr5:74818200-74823800	Weak transcription	Fetal Intestine Small	intestine
24	chr5:74818200-74826200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:74818200-74832200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:74818200-74897400	Weak transcription	Thymus	Thymus
27	chr5:74818600-74827000	Weak transcription	Fetal Intestine Large	intestine
28	chr5:74818600-74828400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:74819000-74828000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:74819000-74829200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:74819000-74832200	Weak transcription	Osteobl	bone
32	chr5:74819400-74823600	Enhancers	Primary B cells from peripheral blood	blood
33	chr5:74819400-74846800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr5:74819600-74823200	Enhancers	Primary T cells from cord blood	blood
35	chr5:74819600-74827200	Weak transcription	A549	lung
36	chr5:74819600-74829800	Weak transcription	HepG2	liver
37	chr5:74820000-74826200	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr5:74820200-74830600	Weak transcription	NHDF-Ad	bronchial
39	chr5:74820400-74824200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:74820400-74832000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr5:74820600-74827800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr5:74820600-74828000	Weak transcription	HMEC	breast
43	chr5:74820600-74830600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr5:74820800-74823200	Weak transcription	Small Intestine	intestine
45	chr5:74820800-74825200	Weak transcription	Right Atrium	heart
46	chr5:74820800-74829200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr5:74820800-74829200	Weak transcription	NHEK	skin
48	chr5:74820800-74830800	Weak transcription	Aorta	Aorta
49	chr5:74820800-74832200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr5:74820800-74832200	Weak transcription	Colon Smooth Muscle	Colon

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