Variant report

Variant	rs4849119
Chromosome Location	chr2:113523463-113523464
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr2:113523278-113523586	SH-SY5Y	brain:	n/a	chr2:113523378-113523385

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113485399..113487990-chr2:113522114..113523918,2	K562	blood:
2	chr2:113520342..113522645-chr2:113523345..113525972,2	K562	blood:
3	chr2:113403176..113405002-chr2:113522178..113523741,2	K562	blood:
4	chr2:113512694..113515330-chr2:113521707..113523749,2	K562	blood:
5	chr2:113402414..113404382-chr2:113520815..113523652,2	MCF-7	breast:
6	chr2:113519458..113523816-chr2:113539890..113544534,4	K562	blood:

No data

Variant related genes	Relation type
CKAP2L	TF binding region
ENSG00000144130	Chromatin interaction
ENSG00000169607	Chromatin interaction
ENSG00000237753	Chromatin interaction
ENSG00000144136	Chromatin interaction
ENSG00000115008	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1040193	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11123150	0.87[AFR][1000 genomes]
rs11677416	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11898680	0.81[AMR][1000 genomes]
rs1304037	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1516789	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1516790	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1800587	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1800794	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1878318	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1878319	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1878320	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1878321	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894399	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2071375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2856836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2856837	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2856840	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2856841	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34015482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783514	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783520	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783557	0.96[EUR][1000 genomes]
rs3783559	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4848299	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4848300	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4848303	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4848304	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59674541	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61381693	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6542090	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6542091	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6542092	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6542093	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6542094	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs697	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825532	0.81[EUR][1000 genomes]
rs7368808	0.81[EUR][1000 genomes]
rs7570215	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7583261	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113522800-113541600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:113523000-113523600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr2:113523000-113525200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr2:113523000-113525200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:113523000-113525400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr2:113523000-113525400	Weak transcription	Adipose Nuclei	Adipose
7	chr2:113523000-113525400	Weak transcription	Psoas Muscle	Psoas
8	chr2:113523000-113525400	Weak transcription	Right Atrium	heart
9	chr2:113523000-113529400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr2:113523200-113523600	Enhancers	HepG2	liver
11	chr2:113523200-113523800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:113523200-113523800	Enhancers	HMEC	breast
13	chr2:113523200-113525200	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr2:113523200-113525200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr2:113523200-113525200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:113523200-113525200	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr2:113523200-113525400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:113523200-113525400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:113523200-113525400	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr2:113523200-113525400	Weak transcription	Primary B cells from cord blood	blood
21	chr2:113523200-113525400	Weak transcription	Primary B cells from peripheral blood	blood
22	chr2:113523200-113525400	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr2:113523200-113525400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr2:113523200-113525400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr2:113523200-113525400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr2:113523200-113525400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr2:113523200-113525400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:113523200-113525400	Weak transcription	Liver	Liver
29	chr2:113523200-113525400	Weak transcription	Brain Hippocampus Middle	brain
30	chr2:113523200-113525400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr2:113523200-113525400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr2:113523200-113525400	Weak transcription	Fetal Intestine Small	intestine
33	chr2:113523200-113525400	Weak transcription	Ovary	ovary
34	chr2:113523200-113525400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr2:113523200-113525400	Weak transcription	Spleen	Spleen
36	chr2:113523200-113525400	Weak transcription	A549	lung
37	chr2:113523200-113525400	Weak transcription	HUVEC	blood vessel
38	chr2:113523200-113525400	Weak transcription	NHLF	lung
39	chr2:113523200-113525600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:113523200-113525600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:113523200-113525600	Weak transcription	Brain Anterior Caudate	brain
42	chr2:113523200-113525600	Weak transcription	Colon Smooth Muscle	Colon
43	chr2:113523200-113525600	Weak transcription	NHEK	skin
44	chr2:113523200-113526000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr2:113523200-113526000	Weak transcription	Brain Substantia Nigra	brain
46	chr2:113523400-113525200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:113523400-113525200	Weak transcription	Dnd41	blood
48	chr2:113523400-113525200	Weak transcription	GM12878-XiMat	blood
49	chr2:113523400-113525400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr2:113523400-113525400	Weak transcription	NHDF-Ad	bronchial

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