Variant report

Variant	rs13101990
Chromosome Location	chr4:186693314-186693315
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:186692686..186695048-chr4:186697662..186700926,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10024359	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1039237	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11132344	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12503317	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13126543	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1499018	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2133382	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2173480	0.81[AMR][1000 genomes]
rs34636974	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432684	chr4:186412851-186742851	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS 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	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1020731	chr4:186512433-186724031	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv830171	chr4:186610113-186789271	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1023412	chr4:186613289-186707428	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv537421	chr4:186613289-186707428	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv427702	chr4:186618031-186782377	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv530178	chr4:186659940-187478310	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
11	nsv1015931	chr4:186683165-186734480	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186655200-186701400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:186661400-186694600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr4:186664800-186693400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:186673000-186714000	Weak transcription	Ovary	ovary
5	chr4:186676600-186694000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:186680600-186702600	Weak transcription	Gastric	stomach
7	chr4:186683400-186694000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr4:186683400-186694600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr4:186683400-186695400	Weak transcription	Colon Smooth Muscle	Colon
10	chr4:186683400-186695600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:186683600-186694200	Weak transcription	HSMM	muscle
12	chr4:186690400-186693400	Weak transcription	Liver	Liver
13	chr4:186690600-186695600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:186691600-186693600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr4:186691600-186693800	Weak transcription	Fetal Intestine Small	intestine
16	chr4:186692000-186694000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr4:186692400-186694800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:186692400-186695200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr4:186692600-186693400	Active TSS	HSMMtube	muscle
20	chr4:186692600-186693400	Enhancers	Osteobl	bone
21	chr4:186692600-186693600	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr4:186692600-186694000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr4:186692600-186695200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:186693000-186693400	Enhancers	Fetal Heart	heart
25	chr4:186693000-186693400	Enhancers	HepG2	liver
26	chr4:186693000-186693600	Enhancers	Stomach Mucosa	stomach
27	chr4:186693000-186694400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr4:186693000-186695000	Flanking Active TSS	HUVEC	blood vessel
29	chr4:186693200-186693400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:186693200-186693400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:186693200-186693400	Enhancers	Aorta	Aorta
32	chr4:186693200-186693400	Flanking Active TSS	Left Ventricle	heart
33	chr4:186693200-186693400	Flanking Active TSS	Pancreas	Pancrea
34	chr4:186693200-186693400	Enhancers	NHDF-Ad	bronchial
35	chr4:186693200-186693600	Flanking Active TSS	Right Atrium	heart
36	chr4:186693200-186693800	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr4:186693200-186694000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr4:186693200-186694000	Enhancers	NH-A	brain
39	chr4:186693200-186694400	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr4:186693200-186695400	Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr4:186693200-186696400	Active TSS	Adipose Nuclei	Adipose
42	chr4:186693200-186697000	Active TSS	Right Ventricle	heart

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