Variant report

Variant	rs648031
Chromosome Location	chr13:110926377-110926378
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	chr13:110919933..110922035-chr13:110926119..110928114,2	K562	blood:
2	chr13:110919933..110922792-chr13:110926003..110927619,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1532323	1.00[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs494558	1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs578937	0.91[ASN][1000 genomes]
rs579019	0.91[ASN][1000 genomes]
rs7330914	1.00[CHB][hapmap];0.96[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.96[ASN][1000 genomes]
rs7987099	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9555679	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9555680	1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9559754	0.83[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9559755	0.85[CHB][hapmap];0.96[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9559757	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9559758	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9559759	1.00[CHB][hapmap];0.82[CHD][hapmap];0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110915200-110936200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr13:110915600-110935800	Weak transcription	Gastric	stomach
3	chr13:110916600-110935800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr13:110916800-110927800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr13:110917400-110939000	Weak transcription	Fetal Intestine Large	intestine
6	chr13:110918200-110935800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr13:110918800-110930000	Weak transcription	Fetal Intestine Small	intestine
8	chr13:110919200-110928400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr13:110919600-110927200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr13:110919600-110928600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr13:110919600-110938600	Weak transcription	HMEC	breast
12	chr13:110919800-110929800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr13:110919800-110937600	Weak transcription	NHEK	skin
14	chr13:110920000-110929400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr13:110920200-110951200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr13:110920600-110934200	Weak transcription	Pancreas	Pancrea
17	chr13:110921000-110929000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr13:110921200-110927000	Weak transcription	NHDF-Ad	bronchial
19	chr13:110921200-110927200	Strong transcription	Osteobl	bone
20	chr13:110921200-110929800	Weak transcription	Fetal Lung	lung
21	chr13:110921400-110926600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr13:110921400-110926600	Weak transcription	Spleen	Spleen
23	chr13:110921400-110935800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr13:110921400-110935800	Weak transcription	Esophagus	oesophagus
25	chr13:110922200-110935800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr13:110922400-110926800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr13:110922600-110926600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr13:110922600-110934000	Weak transcription	HSMM	muscle
29	chr13:110922600-110934200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr13:110923400-110926800	Weak transcription	NHLF	lung
31	chr13:110923400-110931200	Weak transcription	Lung	lung
32	chr13:110923800-110929600	Enhancers	Fetal Heart	heart
33	chr13:110924000-110926600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr13:110924000-110926600	Weak transcription	Right Atrium	heart
35	chr13:110924000-110929400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr13:110924200-110926600	Weak transcription	Right Ventricle	heart
37	chr13:110924400-110929400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr13:110925400-110949000	Weak transcription	Fetal Kidney	kidney
39	chr13:110925600-110926600	Weak transcription	Colon Smooth Muscle	Colon
40	chr13:110925600-110926600	Weak transcription	Left Ventricle	heart
41	chr13:110925600-110927000	Enhancers	Aorta	Aorta
42	chr13:110925600-110927000	Weak transcription	Fetal Stomach	stomach
43	chr13:110925600-110928200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr13:110925600-110932000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr13:110925600-110936200	Weak transcription	HSMMtube	muscle
46	chr13:110925800-110926800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr13:110925800-110926800	Weak transcription	Ovary	ovary
48	chr13:110925800-110927400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr13:110925800-110932600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr13:110925800-110934600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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