Variant report

Variant	rs2412650
Chromosome Location	chr4:56403658-56403659
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:56399354..56402784-chr4:56403627..56405786,3	K562	blood:
2	chr4:56402562..56404656-chr4:56410932..56412764,2	K562	blood:
3	chr4:56400733..56405885-chr4:56406271..56410110,5	K562	blood:

Variant related genes	Relation type
ENSG00000134852	Chromatin interaction
ENSG00000223305	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1047343	1.00[AMR][1000 genomes]
rs10517345	1.00[AMR][1000 genomes]
rs1552522	1.00[AMR][1000 genomes]
rs17085783	1.00[AMR][1000 genomes]
rs17085803	1.00[AMR][1000 genomes]
rs17085857	1.00[AMR][1000 genomes]
rs17085864	1.00[AMR][1000 genomes]
rs17085882	1.00[AMR][1000 genomes]
rs17085885	1.00[AMR][1000 genomes]
rs34028624	1.00[AMR][1000 genomes]
rs34822003	1.00[AMR][1000 genomes]
rs58578647	1.00[AMR][1000 genomes]
rs73151822	1.00[AMR][1000 genomes]
rs73151893	1.00[AMR][1000 genomes]
rs73153621	1.00[AMR][1000 genomes]
rs73153661	1.00[AMR][1000 genomes]
rs73153688	1.00[AMR][1000 genomes]
rs73816271	1.00[AMR][1000 genomes]
rs73816274	1.00[AMR][1000 genomes]
rs7657206	1.00[AMR][1000 genomes]
rs7659053	1.00[AMR][1000 genomes]
rs7661096	1.00[AMR][1000 genomes]
rs7662129	1.00[AMR][1000 genomes]
rs7663749	1.00[AMR][1000 genomes]
rs7686016	1.00[AMR][1000 genomes]
rs7696080	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3328582	chr4:56164136-56486156	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS 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	40 gene(s)	inside rSNPs	diseases
3	nsv10496	chr4:56336946-56841137	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56361600-56411800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:56372600-56405200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr4:56391600-56405600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:56391600-56405600	Weak transcription	Osteobl	bone
5	chr4:56391600-56405800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr4:56391600-56408800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:56391600-56409400	Weak transcription	NHDF-Ad	bronchial
8	chr4:56391800-56409400	Weak transcription	HMEC	breast
9	chr4:56391800-56409400	Weak transcription	NHEK	skin
10	chr4:56391800-56409600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:56393200-56408000	Weak transcription	K562	blood
12	chr4:56396200-56406600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:56396800-56411600	Weak transcription	Psoas Muscle	Psoas
14	chr4:56397000-56404000	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr4:56397200-56404000	Weak transcription	Dnd41	blood
16	chr4:56399200-56404200	Weak transcription	Primary T cells from cord blood	blood
17	chr4:56399600-56404200	Weak transcription	Fetal Lung	lung
18	chr4:56399600-56411600	Weak transcription	Left Ventricle	heart
19	chr4:56399800-56411000	Weak transcription	Brain Substantia Nigra	brain
20	chr4:56400000-56410200	Weak transcription	Fetal Intestine Small	intestine
21	chr4:56400800-56405000	Weak transcription	Fetal Thymus	thymus
22	chr4:56400800-56406800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr4:56400800-56409600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:56401000-56404200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr4:56401000-56404400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:56401000-56409400	Weak transcription	HSMM	muscle
27	chr4:56401000-56409600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:56401000-56411400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr4:56401200-56410000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:56401200-56411800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr4:56401600-56404800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:56401600-56410200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr4:56402400-56409400	Weak transcription	Fetal Heart	heart
34	chr4:56402600-56403800	Enhancers	Lung	lung
35	chr4:56402800-56409600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr4:56402800-56410600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr4:56402800-56411600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr4:56403000-56406600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:56403000-56411400	Weak transcription	Fetal Muscle Leg	muscle
40	chr4:56403200-56403800	ZNF genes & repeats	Fetal Stomach	stomach
41	chr4:56403200-56406800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr4:56403400-56403800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:56403400-56403800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr4:56403400-56403800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr4:56403400-56404000	Enhancers	Primary T cells fromperipheralblood	blood
46	chr4:56403400-56405600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr4:56403400-56405800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr4:56403600-56408000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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