Variant report

Variant	rs10446506
Chromosome Location	chr4:74069419-74069420
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	chr4:74068748..74071542-chr4:74072724..74077034,4	K562	blood:
2	chr4:74069384..74072019-chr4:74086100..74088780,2	K562	blood:

Variant related genes	Relation type
ENSG00000132466	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13102697	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1996057	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34922338	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4694157	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55932174	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56261590	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62311868	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949371	chr4:73678470-74094500	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv432611	chr4:73740665-74099265	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv523169	chr4:73752242-74120910	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv1849323	chr4:73926670-74115116	Strong transcription Active TSS ZNF genes & repeats Enhancers 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	17 gene(s)	inside rSNPs	diseases
5	nsv1000509	chr4:73968978-74206949	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv879486	chr4:74031423-74114322	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	esv1793600	chr4:74046221-74116012	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv879487	chr4:74050725-74090730	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
9	nsv879488	chr4:74050725-74099754	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
10	nsv879489	chr4:74050725-74115116	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
11	esv1792225	chr4:74052028-74076417	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
12	esv3410570	chr4:74055180-74122498	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74031600-74077200	Weak transcription	Small Intestine	intestine
2	chr4:74036600-74088200	Weak transcription	Colonic Mucosa	Colon
3	chr4:74037000-74072200	Weak transcription	Gastric	stomach
4	chr4:74039800-74074600	Weak transcription	Left Ventricle	heart
5	chr4:74043200-74088200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr4:74044000-74072200	Weak transcription	Fetal Lung	lung
7	chr4:74044000-74078600	Weak transcription	Primary T cells from cord blood	blood
8	chr4:74044400-74081400	Weak transcription	Dnd41	blood
9	chr4:74046800-74087400	Weak transcription	Hela-S3	cervix
10	chr4:74047000-74087400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr4:74047000-74087600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr4:74049000-74088200	Weak transcription	HepG2	liver
13	chr4:74053400-74070200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr4:74055200-74069600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:74055600-74069800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:74056000-74069600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr4:74056000-74088200	Weak transcription	Fetal Stomach	stomach
18	chr4:74056000-74089600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:74056000-74123000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:74056800-74074200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:74056800-74074200	Weak transcription	HUVEC	blood vessel
22	chr4:74059600-74070800	Weak transcription	Pancreas	Pancrea
23	chr4:74059600-74074000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:74059600-74074000	Weak transcription	NHEK	skin
25	chr4:74059600-74087400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr4:74059600-74123000	Weak transcription	Esophagus	oesophagus
27	chr4:74059800-74084600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr4:74060000-74079600	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr4:74060200-74074000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:74063000-74077000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:74063000-74079400	Weak transcription	HSMM	muscle
32	chr4:74064600-74086600	Weak transcription	Fetal Kidney	kidney
33	chr4:74065000-74074000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:74065400-74070600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr4:74065400-74073400	Weak transcription	NHDF-Ad	bronchial
36	chr4:74065600-74079000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr4:74065800-74074000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr4:74066000-74073800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr4:74066200-74069600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr4:74066200-74074000	Weak transcription	Osteobl	bone
41	chr4:74066200-74076000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr4:74066200-74085800	Weak transcription	Brain Angular Gyrus	brain
43	chr4:74066200-74087200	Weak transcription	NHLF	lung
44	chr4:74066400-74073400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:74066600-74074000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr4:74067000-74087200	Weak transcription	Liver	Liver
47	chr4:74067600-74073800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr4:74067600-74079400	Weak transcription	A549	lung
49	chr4:74068000-74069600	Weak transcription	Thymus	Thymus
50	chr4:74068000-74072200	Weak transcription	Psoas Muscle	Psoas

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