Variant report

Variant	rs12052182
Chromosome Location	chr19:39462231-39462232
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:39460481..39463471-chr19:39464953..39467389,4	K562	blood:
2	chr19:39434032..39437446-chr19:39461187..39464593,3	K562	blood:
3	chr19:39451381..39454892-chr19:39459687..39462342,3	K562	blood:
4	chr19:39460475..39462812-chr19:39669230..39671981,2	K562	blood:
5	chr19:39455670..39458151-chr19:39461139..39462812,2	K562	blood:
6	chr19:39461386..39463464-chr19:39521724..39523803,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000161243	Chromatin interaction
ENSG00000269190	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10411199	0.86[EUR][1000 genomes]
rs10416467	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10853722	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12151188	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12980086	0.85[AMR][1000 genomes]
rs7245863	0.84[AMR][1000 genomes]
rs7249668	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7254599	0.98[AMR][1000 genomes];0.96[EUR][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	nsv1057899	chr19:39088319-39475493	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39441200-39465200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr19:39441200-39465200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:39441200-39465200	Weak transcription	NHLF	lung
4	chr19:39441200-39465400	Weak transcription	Right Atrium	heart
5	chr19:39441400-39465000	Weak transcription	HUVEC	blood vessel
6	chr19:39450000-39465400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:39453200-39465000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr19:39453200-39465000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr19:39453200-39465000	Weak transcription	K562	blood
10	chr19:39453200-39465200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr19:39453200-39465200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr19:39453200-39465200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr19:39453200-39465200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr19:39453200-39465800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr19:39453200-39465800	Weak transcription	Pancreas	Pancrea
16	chr19:39453400-39464400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr19:39453400-39464800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr19:39453400-39464800	Weak transcription	Fetal Brain Male	brain
19	chr19:39453400-39464800	Weak transcription	Osteobl	bone
20	chr19:39453400-39465000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr19:39453400-39465000	Weak transcription	HMEC	breast
22	chr19:39453400-39465200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr19:39453400-39465200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr19:39453400-39465200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr19:39453400-39465200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr19:39453400-39465200	Weak transcription	Aorta	Aorta
27	chr19:39453400-39465200	Weak transcription	Brain Angular Gyrus	brain
28	chr19:39453400-39465200	Weak transcription	HSMM	muscle
29	chr19:39453400-39465200	Weak transcription	NH-A	brain
30	chr19:39453400-39465200	Weak transcription	NHEK	skin
31	chr19:39453400-39465400	Weak transcription	Brain Anterior Caudate	brain
32	chr19:39453400-39465400	Weak transcription	Brain Germinal Matrix	brain
33	chr19:39453400-39465400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr19:39454000-39464600	Strong transcription	Fetal Stomach	stomach
35	chr19:39454400-39465000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr19:39456000-39465600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr19:39458800-39465000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr19:39458800-39465000	Weak transcription	Ovary	ovary
39	chr19:39458800-39465200	Weak transcription	Colon Smooth Muscle	Colon
40	chr19:39458800-39465200	Weak transcription	Fetal Kidney	kidney
41	chr19:39459800-39465000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr19:39459800-39465000	Weak transcription	NHDF-Ad	bronchial
43	chr19:39459800-39465200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr19:39460000-39464400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr19:39460000-39465200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr19:39460200-39462800	Strong transcription	Fetal Muscle Leg	muscle
47	chr19:39460200-39465400	Weak transcription	Brain Substantia Nigra	brain
48	chr19:39460200-39465600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr19:39460400-39462800	Strong transcription	Fetal Muscle Trunk	muscle
50	chr19:39460600-39463600	Weak transcription	Fetal Intestine Large	intestine

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