Variant report

Variant	rs73922616
Chromosome Location	chr2:32167053-32167054
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:32165617..32167140-chr2:32168649..32171458,2	MCF-7	breast:
2	chr2:32160268..32161970-chr2:32165690..32167478,2	K562	blood:
3	chr2:32165597..32167761-chr2:32263363..32266218,2	MCF-7	breast:
4	chr2:32166637..32169522-chr2:32234606..32236345,2	K562	blood:

Variant related genes	Relation type
ENSG00000162959	Chromatin interaction
ENSG00000162961	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10196440	1.00[AMR][1000 genomes]
rs13385019	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13393847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13416750	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13432390	1.00[AFR][1000 genomes]
rs56988829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73922617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73922621	1.00[AMR][1000 genomes]
rs73922703	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv873777	chr2:32019747-32197123	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv508718	chr2:32154215-32172810	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32061600-32172800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr2:32075800-32170000	Weak transcription	Aorta	Aorta
3	chr2:32086600-32174400	Weak transcription	NHLF	lung
4	chr2:32099600-32193000	Weak transcription	Hela-S3	cervix
5	chr2:32107200-32167600	Weak transcription	Left Ventricle	heart
6	chr2:32116200-32173000	Weak transcription	HSMMtube	muscle
7	chr2:32116800-32169400	Weak transcription	Small Intestine	intestine
8	chr2:32116800-32182200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr2:32117000-32205200	Weak transcription	NH-A	brain
10	chr2:32118600-32170600	Weak transcription	Gastric	stomach
11	chr2:32119200-32181400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr2:32126200-32170400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr2:32127400-32190200	Weak transcription	Lung	lung
14	chr2:32127800-32169800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr2:32128400-32170200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:32132400-32183000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:32134200-32167600	Weak transcription	Brain Germinal Matrix	brain
18	chr2:32136600-32188800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:32137000-32168000	Weak transcription	Adipose Nuclei	Adipose
20	chr2:32137000-32170000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:32137000-32189200	Weak transcription	Fetal Kidney	kidney
22	chr2:32137200-32167600	Weak transcription	Ovary	ovary
23	chr2:32137600-32168000	Weak transcription	Fetal Muscle Leg	muscle
24	chr2:32139200-32173600	Weak transcription	Brain Hippocampus Middle	brain
25	chr2:32143000-32172000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr2:32143400-32167200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr2:32145000-32183000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:32145200-32167600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr2:32145200-32167600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr2:32145200-32170200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr2:32145200-32173600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:32145200-32190800	Weak transcription	Pancreas	Pancrea
33	chr2:32146400-32183400	Weak transcription	Psoas Muscle	Psoas
34	chr2:32148200-32170400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:32152400-32167600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:32152400-32167600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:32152400-32167600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:32158200-32169800	Weak transcription	HUVEC	blood vessel
39	chr2:32159200-32173600	Weak transcription	Right Ventricle	heart
40	chr2:32160600-32169800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:32160800-32168600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr2:32161000-32168800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr2:32161800-32168200	Weak transcription	Spleen	Spleen
44	chr2:32162000-32169600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr2:32162200-32167600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:32162200-32170000	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr2:32163800-32168600	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr2:32164000-32168800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:32164800-32168600	Strong transcription	Primary B cells from peripheral blood	blood
50	chr2:32165000-32168200	Strong transcription	Liver	Liver

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