Variant report

Variant	rs12160593
Chromosome Location	chr22:33345430-33345431
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	22:32846948-32860159..22:33339333-33353583	K562	blood:

Variant related genes	Relation type
ENSG00000184459	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12158497	1.00[YRI][hapmap]
rs1896288	1.00[AMR][1000 genomes]
rs25112	1.00[YRI][hapmap]
rs28780765	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57006933	1.00[AMR][1000 genomes]
rs57812631	1.00[AMR][1000 genomes]
rs58135128	1.00[AMR][1000 genomes]
rs58652298	1.00[AMR][1000 genomes]
rs58746144	1.00[AMR][1000 genomes]
rs60135459	1.00[AMR][1000 genomes]
rs61145160	1.00[AMR][1000 genomes]
rs73162034	1.00[AMR][1000 genomes]
rs73405259	1.00[AMR][1000 genomes]
rs73405266	1.00[AMR][1000 genomes]
rs73405286	1.00[AMR][1000 genomes]
rs73405290	1.00[AMR][1000 genomes]
rs73405295	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73405297	1.00[AMR][1000 genomes]
rs73408524	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408531	1.00[AMR][1000 genomes]
rs73408536	1.00[AMR][1000 genomes]
rs73408544	1.00[AMR][1000 genomes]
rs8142025	1.00[AMR][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	nsv531568	chr22:33336868-33480272	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33314000-33380800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:33340200-33346000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr22:33341600-33349600	Weak transcription	Fetal Brain Male	brain
4	chr22:33343000-33345600	Weak transcription	Fetal Kidney	kidney
5	chr22:33343000-33347000	Enhancers	Fetal Intestine Small	intestine
6	chr22:33343200-33345800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr22:33343200-33347400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr22:33343200-33372600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr22:33343600-33346800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr22:33343600-33353000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr22:33344200-33346400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr22:33344200-33360400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr22:33344400-33345800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr22:33344800-33346600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr22:33345000-33349200	Enhancers	Fetal Heart	heart
16	chr22:33345000-33350800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr22:33345200-33348200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr22:33345200-33348400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr22:33345400-33346000	Enhancers	HMEC	breast
20	chr22:33345400-33346200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr22:33345400-33346200	Enhancers	Lung	lung
22	chr22:33345400-33346200	Enhancers	Ovary	ovary
23	chr22:33345400-33346600	Enhancers	Pancreas	Pancrea
24	chr22:33345400-33347400	Enhancers	Fetal Intestine Large	intestine
25	chr22:33345400-33348400	Enhancers	Fetal Muscle Leg	muscle
26	chr22:33345400-33348600	Enhancers	Placenta	Placenta
27	chr22:33345400-33348600	Enhancers	Left Ventricle	heart

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