Variant report

Variant	rs13103736
Chromosome Location	chr4:187632957-187632958
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	chr4:187631523..187634581-chr4:187642578..187645916,3	K562	blood:
2	chr4:187632290..187634581-chr4:187642578..187644901,2	K562	blood:

Variant related genes	Relation type
ENSG00000083857	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10020743	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10031624	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13104916	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13123872	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13150774	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1491248	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28619448	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3733413	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025088	chr4:187407683-187674585	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1025244	chr4:187419770-188284813	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1034212	chr4:187437895-188030805	Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv537438	chr4:187437895-188030805	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv532745	chr4:187471692-188205443	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv1022262	chr4:187475862-187848284	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1024705	chr4:187534005-187849091	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1026970	chr4:187537418-187913351	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv596440	chr4:187538133-187848075	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187622600-187634200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:187624800-187633800	Weak transcription	Brain Substantia Nigra	brain
3	chr4:187626400-187643600	Weak transcription	Stomach Mucosa	stomach
4	chr4:187628400-187634400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr4:187628800-187635200	Weak transcription	Brain Hippocampus Middle	brain
6	chr4:187630200-187633800	Weak transcription	Small Intestine	intestine
7	chr4:187630400-187643600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:187630600-187633600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr4:187630600-187634200	Enhancers	Fetal Heart	heart
10	chr4:187630600-187634800	Weak transcription	Fetal Stomach	stomach
11	chr4:187630600-187635400	Weak transcription	Right Atrium	heart
12	chr4:187630600-187638800	Weak transcription	Gastric	stomach
13	chr4:187630600-187638800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr4:187630600-187641600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr4:187630800-187633800	Weak transcription	Placenta	Placenta
16	chr4:187630800-187633800	Weak transcription	HSMMtube	muscle
17	chr4:187630800-187636600	Weak transcription	Aorta	Aorta
18	chr4:187630800-187636800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr4:187631000-187633000	Weak transcription	HMEC	breast
20	chr4:187631000-187633200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr4:187631000-187633400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:187631000-187633600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:187631000-187633600	Weak transcription	Osteobl	bone
24	chr4:187631000-187633800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr4:187631000-187633800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:187631000-187633800	Weak transcription	NH-A	brain
27	chr4:187631000-187634000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr4:187631000-187634000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:187631000-187634000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr4:187631000-187634600	Weak transcription	Right Ventricle	heart
31	chr4:187631000-187634800	Weak transcription	Ovary	ovary
32	chr4:187631000-187635000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr4:187631000-187635400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr4:187631000-187635400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr4:187631000-187635800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:187631000-187636600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr4:187631000-187638400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr4:187631000-187639000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr4:187631000-187639200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr4:187631000-187640000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr4:187631000-187641200	Weak transcription	Fetal Kidney	kidney
42	chr4:187631000-187643600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr4:187631200-187636800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr4:187631400-187634200	Weak transcription	HSMM	muscle
45	chr4:187631600-187634200	Enhancers	HepG2	liver
46	chr4:187631800-187635800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:187632200-187633600	Weak transcription	NHDF-Ad	bronchial
48	chr4:187632200-187633600	Weak transcription	NHEK	skin
49	chr4:187632200-187633800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr4:187632200-187633800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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