Variant report

Variant	rs4704227
Chromosome Location	chr5:74826735-74826736
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74806414..74809041-chr5:74824381..74827349,2	K562	blood:

Variant related genes	Relation type
ENSG00000122008	Chromatin interaction
ENSG00000113163	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11748027	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4549504	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4604177	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4704219	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4704220	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4704221	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4704223	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5744552	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5744672	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5744680	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6873472	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6878990	0.86[EUR][1000 genomes]
rs6896136	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7703282	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7733436	0.85[EUR][1000 genomes]
rs984976	0.89[AMR][1000 genomes];0.94[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	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:72 , 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	chr5:74818000-74827000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:74818000-74827400	Weak transcription	Ovary	ovary
10	chr5:74818000-74827600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:74818000-74828000	Weak transcription	Fetal Lung	lung
12	chr5:74818000-74829000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:74818000-74829200	Weak transcription	Fetal Stomach	stomach
14	chr5:74818000-74830400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:74818000-74830400	Weak transcription	Liver	Liver
16	chr5:74818000-74830600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr5:74818000-74832000	Weak transcription	Fetal Thymus	thymus
18	chr5:74818000-74832000	Weak transcription	Lung	lung
19	chr5:74818000-74832000	Weak transcription	Pancreas	Pancrea
20	chr5:74818000-74832200	Weak transcription	Esophagus	oesophagus
21	chr5:74818000-74832200	Weak transcription	HSMM	muscle
22	chr5:74818200-74832200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:74818200-74897400	Weak transcription	Thymus	Thymus
24	chr5:74818600-74827000	Weak transcription	Fetal Intestine Large	intestine
25	chr5:74818600-74828400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr5:74819000-74828000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:74819000-74829200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:74819000-74832200	Weak transcription	Osteobl	bone
29	chr5:74819400-74846800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr5:74819600-74827200	Weak transcription	A549	lung
31	chr5:74819600-74829800	Weak transcription	HepG2	liver
32	chr5:74820200-74830600	Weak transcription	NHDF-Ad	bronchial
33	chr5:74820400-74832000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr5:74820600-74827800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:74820600-74828000	Weak transcription	HMEC	breast
36	chr5:74820600-74830600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr5:74820800-74829200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr5:74820800-74829200	Weak transcription	NHEK	skin
39	chr5:74820800-74830800	Weak transcription	Aorta	Aorta
40	chr5:74820800-74832200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr5:74820800-74832200	Weak transcription	Colon Smooth Muscle	Colon
42	chr5:74821000-74830400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr5:74821000-74830800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr5:74821600-74828200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr5:74821600-74832400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr5:74822200-74830600	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr5:74822200-74831400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr5:74822200-74832400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr5:74822600-74827400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr5:74822600-74829200	Weak transcription	HSMMtube	muscle

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