Variant report

Variant	rs2702350
Chromosome Location	chr4:56825052-56825053
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:56823847..56825754-chr4:56827329..56831470,3	K562	blood:
2	chr4:56823348..56825080-chr4:56837763..56840260,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000174799	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10003765	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2593067	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2593084	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2593087	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2611824	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2611825	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2611827	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2702323	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2702326	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2702331	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2702343	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2702346	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2702358	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs41467652	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1005845	chr4:56522075-56980357	Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	esv3406311	chr4:56580578-56840877	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv427681	chr4:56651921-56908209	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56815800-56839200	Weak transcription	Esophagus	oesophagus
2	chr4:56815800-56875000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:56816000-56833400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr4:56816200-56839400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:56816200-56846600	Weak transcription	Right Ventricle	heart
6	chr4:56816200-56873400	Weak transcription	Pancreas	Pancrea
7	chr4:56816200-56884200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr4:56816200-56887800	Weak transcription	Gastric	stomach
9	chr4:56816400-56826400	Weak transcription	Brain Anterior Caudate	brain
10	chr4:56816400-56827000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr4:56816400-56866000	Weak transcription	Spleen	Spleen
12	chr4:56816400-56890800	Weak transcription	Colon Smooth Muscle	Colon
13	chr4:56816600-56829800	Weak transcription	Colonic Mucosa	Colon
14	chr4:56816600-56831800	Weak transcription	Fetal Lung	lung
15	chr4:56816600-56834000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr4:56816600-56851800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:56816600-56852000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr4:56816600-56865800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr4:56816600-56890600	Weak transcription	Brain Hippocampus Middle	brain
20	chr4:56816600-56896400	Weak transcription	Fetal Heart	heart
21	chr4:56816800-56831400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:56816800-56865800	Weak transcription	Small Intestine	intestine
23	chr4:56816800-56869800	Weak transcription	HepG2	liver
24	chr4:56817400-56839200	Weak transcription	NHEK	skin
25	chr4:56817400-56885400	Weak transcription	NHDF-Ad	bronchial
26	chr4:56817800-56827600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:56817800-56846200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr4:56817800-56854600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:56818200-56826400	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr4:56818200-56837200	Strong transcription	Fetal Thymus	thymus
31	chr4:56818200-56853800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr4:56818400-56825400	Strong transcription	Primary B cells from cord blood	blood
33	chr4:56818400-56825400	Strong transcription	Primary hematopoietic stem cells	blood
34	chr4:56818400-56826200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr4:56818400-56826200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr4:56818400-56826400	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr4:56818400-56827000	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr4:56818400-56827400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr4:56818400-56827600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr4:56818400-56827800	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr4:56818400-56828200	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr4:56818400-56828800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr4:56818400-56829800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr4:56818400-56831000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:56818400-56833000	Strong transcription	Primary B cells from peripheral blood	blood
46	chr4:56818600-56825200	Strong transcription	NH-A	brain
47	chr4:56818600-56826200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr4:56818800-56826800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr4:56818800-56841800	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr4:56819000-56825200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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