Variant report

Variant	rs1114718
Chromosome Location	chr4:106178473-106178474
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:106176096..106178762-chr4:106183057..106185606,2	MCF-7	breast:
2	chr4:105825123..105826942-chr4:106178075..106179720,2	MCF-7	breast:
3	chr4:106173816..106176060-chr4:106177948..106179489,2	K562	blood:
4	chr4:106176528..106179103-chr4:106393524..106395393,3	MCF-7	breast:
5	chr4:106066782..106069453-chr4:106176997..106178994,2	MCF-7	breast:
6	chr4:106100162..106102870-chr4:106177056..106179068,2	K562	blood:

Variant related genes	Relation type
ENSG00000138777	Chromatin interaction
ENSG00000168769	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11933960	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12498609	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12506006	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12511800	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12640842	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12642165	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12647779	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12647884	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1391442	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17583579	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17583593	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2023841	0.90[ASN][1000 genomes]
rs2088484	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2866774	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6533180	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs949681	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9637601	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461609	chr4:105869548-106366209	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv470063	chr4:105869548-106366209	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv595007	chr4:105869548-106366209	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv879698	chr4:106155751-106309224	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106113600-106195800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr4:106142000-106190800	Weak transcription	Small Intestine	intestine
3	chr4:106148000-106192800	Weak transcription	Psoas Muscle	Psoas
4	chr4:106150200-106191400	Weak transcription	HUVEC	blood vessel
5	chr4:106154000-106198800	Weak transcription	Hela-S3	cervix
6	chr4:106156600-106180800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr4:106156800-106190800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr4:106156800-106196200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr4:106157000-106186000	Weak transcription	NH-A	brain
10	chr4:106157000-106190400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr4:106157400-106193600	Weak transcription	Colonic Mucosa	Colon
12	chr4:106157800-106190600	Weak transcription	NHLF	lung
13	chr4:106158000-106180800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr4:106158200-106186600	Weak transcription	Stomach Mucosa	stomach
15	chr4:106158200-106190600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:106158200-106190600	Weak transcription	NHEK	skin
17	chr4:106158200-106190800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:106158200-106190800	Weak transcription	Pancreas	Pancrea
19	chr4:106158200-106190800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr4:106158200-106190800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr4:106158400-106190000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:106158400-106190800	Weak transcription	Gastric	stomach
23	chr4:106158400-106190800	Weak transcription	Lung	lung
24	chr4:106160200-106183200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:106162800-106190800	Weak transcription	Fetal Heart	heart
26	chr4:106163400-106196400	Weak transcription	Brain Angular Gyrus	brain
27	chr4:106163600-106190800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr4:106165000-106182400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr4:106165000-106189800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:106165200-106180000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr4:106165200-106190800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:106165400-106180200	Weak transcription	Fetal Thymus	thymus
33	chr4:106165400-106180600	Weak transcription	Placenta	Placenta
34	chr4:106165400-106190000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr4:106165400-106190800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr4:106165800-106183400	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr4:106166200-106180200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr4:106167400-106193400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr4:106168000-106180600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr4:106168000-106186200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr4:106168000-106190600	Weak transcription	HSMMtube	muscle
42	chr4:106168000-106190600	Weak transcription	Osteobl	bone
43	chr4:106168000-106190800	Weak transcription	Aorta	Aorta
44	chr4:106168400-106184600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr4:106168400-106186000	Weak transcription	HSMM	muscle
46	chr4:106168600-106193400	Weak transcription	NHDF-Ad	bronchial
47	chr4:106172000-106190800	Weak transcription	Esophagus	oesophagus
48	chr4:106172200-106180200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr4:106172200-106183800	Weak transcription	Left Ventricle	heart
50	chr4:106172400-106181400	Weak transcription	Rectal Mucosa Donor 29	rectum

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