Variant report

Variant	rs13106485
Chromosome Location	chr4:122727240-122727241
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:122726600..122728748-chr4:122758977..122760929,2	K562	blood:
2	chr4:122720772..122725008-chr4:122725244..122729002,8	K562	blood:

Variant related genes	Relation type
ENSG00000123737	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10002280	1.00[ASN][1000 genomes]
rs10857086	1.00[ASN][1000 genomes]
rs11098647	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11732582	0.97[EUR][1000 genomes]
rs12499222	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13105974	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1532968	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17517624	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2661553	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2661555	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2706791	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706792	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706793	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706796	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28665553	1.00[ASN][1000 genomes]
rs4295291	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4519820	1.00[ASN][1000 genomes]
rs4833774	1.00[ASN][1000 genomes]
rs6815050	0.95[EUR][1000 genomes]
rs6819870	1.00[ASN][1000 genomes]
rs6823686	0.93[ASN][1000 genomes]
rs6830128	0.99[ASN][1000 genomes]
rs6835864	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6836290	1.00[ASN][1000 genomes]
rs6838198	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7661641	0.96[ASN][1000 genomes]
rs7672640	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7690095	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9999982	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][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	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv997539	chr4:122544104-123274266	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv530157	chr4:122557302-123248756	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122723000-122729600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:122723000-122733400	Weak transcription	Pancreas	Pancrea
3	chr4:122723000-122743600	Weak transcription	Esophagus	oesophagus
4	chr4:122723000-122743600	Weak transcription	Small Intestine	intestine
5	chr4:122723000-122744200	Weak transcription	Gastric	stomach
6	chr4:122723000-122744600	Weak transcription	Aorta	Aorta
7	chr4:122723200-122729200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:122723200-122731400	Weak transcription	Right Ventricle	heart
9	chr4:122723200-122737000	Weak transcription	Colonic Mucosa	Colon
10	chr4:122723200-122741800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr4:122723200-122743400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:122723200-122743600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr4:122723200-122743800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:122723400-122729400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr4:122723400-122744200	Weak transcription	Stomach Mucosa	stomach
16	chr4:122723600-122727600	Weak transcription	Fetal Brain Male	brain
17	chr4:122723600-122728800	Weak transcription	HUVEC	blood vessel
18	chr4:122723600-122732400	Weak transcription	Psoas Muscle	Psoas
19	chr4:122723600-122742200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:122723600-122742400	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr4:122723600-122742800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr4:122723800-122727400	Strong transcription	Brain Germinal Matrix	brain
23	chr4:122723800-122733000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:122723800-122734000	Strong transcription	Left Ventricle	heart
25	chr4:122723800-122736400	Strong transcription	Fetal Muscle Leg	muscle
26	chr4:122723800-122739400	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr4:122723800-122739600	Strong transcription	Primary B cells from peripheral blood	blood
28	chr4:122723800-122739600	Strong transcription	Liver	Liver
29	chr4:122723800-122740000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr4:122723800-122740000	Strong transcription	Osteobl	bone
31	chr4:122723800-122740400	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr4:122723800-122740400	Strong transcription	Fetal Intestine Large	intestine
33	chr4:122723800-122740600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr4:122723800-122741800	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr4:122723800-122742200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr4:122723800-122742400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:122723800-122743000	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr4:122723800-122743000	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr4:122723800-122743000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr4:122724000-122727800	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr4:122724000-122729200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr4:122724000-122730200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr4:122724000-122731600	Strong transcription	Brain Anterior Caudate	brain
44	chr4:122724000-122732400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr4:122724000-122733000	Strong transcription	Fetal Lung	lung
46	chr4:122724000-122735800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr4:122724000-122738200	Strong transcription	NHDF-Ad	bronchial
48	chr4:122724000-122740000	Strong transcription	Primary B cells from cord blood	blood
49	chr4:122724000-122740200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr4:122724000-122740400	Strong transcription	Placenta	Placenta

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