Variant report

Variant	rs10011483
Chromosome Location	chr4:74042477-74042478
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:74041547..74044783-chr4:74121804..74125383,3	K562	blood:
2	chr4:74029082..74031220-chr4:74040346..74042692,2	MCF-7	breast:
3	chr4:74041547..74043197-chr4:74121804..74124328,2	K562	blood:
4	chr4:74042469..74044211-chr4:74044303..74047077,2	K562	blood:
5	chr4:74041420..74044364-chr4:74048787..74051206,3	K562	blood:
6	chr4:74042367..74044250-chr4:74088386..74090139,2	K562	blood:
7	chr4:73984406..73985985-chr4:74042238..74044763,2	K562	blood:

Variant related genes	Relation type
ENSG00000250220	Chromatin interaction
ENSG00000132466	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10019296	1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs10028486	0.80[YRI][hapmap]
rs2306057	0.83[YRI][hapmap]
rs28709646	0.83[YRI][hapmap]
rs7664144	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7679277	0.80[YRI][hapmap]
rs9997697	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv998707	chr4:73753922-74044843	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv537136	chr4:73753922-74044843	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv917017	chr4:73754127-74044830	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv533502	chr4:73819067-74044813	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer 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
8	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
9	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
10	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

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:73940400-74043400	Strong transcription	Fetal Thymus	thymus
2	chr4:74006800-74043400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:74008800-74059600	Weak transcription	Fetal Brain Male	brain
4	chr4:74014600-74046400	Weak transcription	Hela-S3	cervix
5	chr4:74018400-74055200	Weak transcription	Psoas Muscle	Psoas
6	chr4:74019200-74043400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr4:74024200-74043200	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr4:74027800-74043600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:74030800-74043000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:74030800-74043400	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr4:74031000-74043600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:74031000-74043800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:74031600-74043400	ZNF genes & repeats	GM12878-XiMat	blood
14	chr4:74031600-74066800	Weak transcription	HMEC	breast
15	chr4:74031600-74077200	Weak transcription	Small Intestine	intestine
16	chr4:74032400-74042800	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr4:74036000-74045800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:74036400-74044000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr4:74036600-74046400	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr4:74036600-74046600	Weak transcription	Brain Angular Gyrus	brain
21	chr4:74036600-74046600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr4:74036600-74088200	Weak transcription	Colonic Mucosa	Colon
23	chr4:74036800-74043200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr4:74036800-74048600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr4:74036800-74049200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr4:74036800-74055200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:74036800-74055200	Weak transcription	Pancreas	Pancrea
28	chr4:74036800-74059400	Weak transcription	Spleen	Spleen
29	chr4:74036800-74062800	Weak transcription	Aorta	Aorta
30	chr4:74036800-74064800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr4:74037000-74043000	Weak transcription	Brain Hippocampus Middle	brain
32	chr4:74037000-74045800	Weak transcription	Lung	lung
33	chr4:74037000-74055200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:74037000-74064800	Weak transcription	Brain Anterior Caudate	brain
35	chr4:74037000-74072200	Weak transcription	Gastric	stomach
36	chr4:74037200-74048200	Weak transcription	HSMMtube	muscle
37	chr4:74037200-74058800	Weak transcription	NHEK	skin
38	chr4:74037200-74064400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:74037400-74050400	Weak transcription	Brain Substantia Nigra	brain
40	chr4:74037800-74052200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr4:74038200-74043400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr4:74039400-74045400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr4:74039400-74058000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr4:74039400-74062200	Weak transcription	HSMM	muscle
45	chr4:74039400-74064600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr4:74039400-74068800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr4:74039600-74043000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr4:74039600-74043400	Weak transcription	Esophagus	oesophagus
49	chr4:74039600-74045400	Weak transcription	Colon Smooth Muscle	Colon
50	chr4:74039600-74051800	Weak transcription	HUVEC	blood vessel

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