Variant report

Variant	rs10427961
Chromosome Location	chr22:33013905-33013906
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	chr22:33012442..33014400-chr22:33241656..33243487,2	K562	blood:
2	chr22:33012442..33015422-chr22:33150856..33153115,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs13340090	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16990837	0.88[ASN][1000 genomes]
rs16990846	0.96[ASN][1000 genomes]
rs16990851	0.93[ASN][1000 genomes]
rs16990852	1.00[ASN][1000 genomes]
rs57696440	1.00[ASN][1000 genomes]
rs59218864	1.00[ASN][1000 genomes]
rs60022533	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs60744960	1.00[ASN][1000 genomes]
rs62232743	0.96[ASN][1000 genomes]
rs62232744	0.96[ASN][1000 genomes]
rs62232752	1.00[ASN][1000 genomes]
rs738994	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8137407	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8139704	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8139932	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9619281	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9621514	0.83[EUR][1000 genomes]
rs9784225	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055541	chr22:33006967-33101138	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2762119	chr22:33006967-33101150	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1061824	chr22:33013014-33101138	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33010400-33017400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:33011400-33015800	Enhancers	Fetal Stomach	stomach
3	chr22:33011600-33015000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr22:33011600-33015200	Enhancers	Fetal Muscle Trunk	muscle
5	chr22:33011600-33015200	Enhancers	Fetal Muscle Leg	muscle
6	chr22:33011800-33014400	Enhancers	Placenta Amnion	Placenta Amnion
7	chr22:33011800-33015200	Weak transcription	Hela-S3	cervix
8	chr22:33012000-33016000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr22:33012200-33014400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr22:33012400-33017600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr22:33012400-33017800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr22:33012400-33018400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr22:33012600-33014000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr22:33012600-33015800	Enhancers	Fetal Lung	lung
15	chr22:33012600-33017000	Weak transcription	Lung	lung
16	chr22:33012600-33017400	Weak transcription	Fetal Heart	heart
17	chr22:33012800-33014000	Enhancers	Stomach Smooth Muscle	stomach
18	chr22:33012800-33017600	Enhancers	HepG2	liver
19	chr22:33013000-33014400	Enhancers	Colonic Mucosa	Colon
20	chr22:33013000-33015200	Enhancers	Placenta	Placenta
21	chr22:33013000-33015200	Enhancers	Ovary	ovary
22	chr22:33013000-33016000	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr22:33013200-33014000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr22:33013200-33014600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr22:33013400-33014200	Enhancers	Small Intestine	intestine
26	chr22:33013400-33014800	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr22:33013400-33015000	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr22:33013400-33016000	Enhancers	Liver	Liver
29	chr22:33013600-33014000	Enhancers	Rectal Smooth Muscle	rectum
30	chr22:33013600-33014200	Enhancers	Brain Anterior Caudate	brain
31	chr22:33013600-33014600	Enhancers	Fetal Kidney	kidney
32	chr22:33013600-33015200	Enhancers	Fetal Brain Male	brain
33	chr22:33013600-33015800	Enhancers	Adipose Nuclei	Adipose
34	chr22:33013600-33015800	Enhancers	Colon Smooth Muscle	Colon
35	chr22:33013600-33016000	Enhancers	Right Atrium	heart
36	chr22:33013600-33016000	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr22:33013800-33014000	Enhancers	Stomach Mucosa	stomach
38	chr22:33013800-33014000	Bivalent Enhancer	NHDF-Ad	bronchial
39	chr22:33013800-33014200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr22:33013800-33014200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr22:33013800-33014200	Enhancers	Fetal Brain Female	brain
42	chr22:33013800-33014200	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr22:33013800-33014200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
44	chr22:33013800-33014400	Enhancers	Psoas Muscle	Psoas
45	chr22:33013800-33014600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr22:33013800-33014600	Enhancers	Duodenum Mucosa	Duodenum
47	chr22:33013800-33015000	Enhancers	Right Ventricle	heart
48	chr22:33013800-33015200	Enhancers	Esophagus	oesophagus
49	chr22:33013800-33015200	Enhancers	Left Ventricle	heart
50	chr22:33013800-33015800	Enhancers	Brain Cingulate Gyrus	brain

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