Variant report

Variant	rs72784502
Chromosome Location	chr2:10173051-10173052
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:9954114..9958283-chr2:10172857..10175994,4	K562	blood:
2	chr2:10161627..10162552-chr2:10172888..10173460,4	MCF-7	breast:
3	chr2:10170977..10174383-chr2:10258938..10261054,3	K562	blood:
4	chr2:10156481..10159398-chr2:10171090..10173164,2	MCF-7	breast:
5	chr2:10168694..10173635-chr2:10261158..10263596,5	K562	blood:
6	chr2:9695148..9697523-chr2:10171412..10173303,2	K562	blood:
7	chr2:10171702..10174404-chr2:10195270..10196938,2	MCF-7	breast:
8	chr2:10161659..10162552-chr2:10172888..10173460,3	MCF-7	breast:
9	chr2:10169082..10172266-chr2:10172461..10174978,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272524	Chromatin interaction
ENSG00000171848	Chromatin interaction
ENSG00000271855	Chromatin interaction
ENSG00000260476	Chromatin interaction
ENSG00000151694	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11886933	1.00[ASN][1000 genomes]
rs12468621	1.00[ASN][1000 genomes]
rs2116017	1.00[ASN][1000 genomes]
rs35927125	1.00[ASN][1000 genomes]
rs4444493	1.00[ASN][1000 genomes]
rs4669510	1.00[ASN][1000 genomes]
rs4669512	1.00[ASN][1000 genomes]
rs55797250	1.00[ASN][1000 genomes]
rs56013048	1.00[ASN][1000 genomes]
rs56147664	1.00[ASN][1000 genomes]
rs57031421	1.00[ASN][1000 genomes]
rs6716517	1.00[ASN][1000 genomes]
rs6717307	1.00[ASN][1000 genomes]
rs6744258	1.00[ASN][1000 genomes]
rs72542775	1.00[ASN][1000 genomes]
rs72542787	1.00[ASN][1000 genomes]
rs72786603	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7586930	1.00[ASN][1000 genomes]
rs7591484	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv997334	chr2:10080327-10189279	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv828297	chr2:10109299-10236332	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv1007965	chr2:10154960-10276125	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	nsv1014790	chr2:10156968-10274855	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	nsv999019	chr2:10157762-10273232	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72784502	CYS1	cis	Thyroid	GTEx

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10160400-10175000	Weak transcription	Liver	Liver
2	chr2:10169400-10176000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:10169800-10179200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:10170000-10177000	Enhancers	Primary B cells from peripheral blood	blood
5	chr2:10170200-10173400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr2:10170400-10175000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr2:10170400-10175800	Weak transcription	Brain Anterior Caudate	brain
8	chr2:10170400-10175800	Weak transcription	Brain Substantia Nigra	brain
9	chr2:10170400-10175800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:10170400-10175800	Weak transcription	Pancreas	Pancrea
11	chr2:10170400-10176200	Weak transcription	Colonic Mucosa	Colon
12	chr2:10170400-10178200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr2:10170600-10173400	Weak transcription	Left Ventricle	heart
14	chr2:10170600-10173600	Weak transcription	Gastric	stomach
15	chr2:10170600-10174400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:10170600-10174400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:10170600-10175000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr2:10170600-10175000	Weak transcription	Brain Hippocampus Middle	brain
19	chr2:10170600-10175200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr2:10170600-10175400	Weak transcription	Spleen	Spleen
21	chr2:10170600-10175800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:10170600-10175800	Weak transcription	Right Atrium	heart
23	chr2:10170600-10175800	Weak transcription	NHDF-Ad	bronchial
24	chr2:10170600-10176600	Weak transcription	Fetal Brain Female	brain
25	chr2:10170600-10182000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr2:10170800-10173400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr2:10170800-10173600	Weak transcription	Adipose Nuclei	Adipose
28	chr2:10170800-10174800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr2:10170800-10174800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr2:10170800-10174800	Weak transcription	Placenta	Placenta
31	chr2:10170800-10175000	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr2:10170800-10175400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr2:10170800-10175800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr2:10170800-10175800	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr2:10170800-10175800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr2:10170800-10175800	Weak transcription	Esophagus	oesophagus
37	chr2:10170800-10175800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr2:10170800-10176000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:10170800-10176000	Weak transcription	Right Ventricle	heart
40	chr2:10170800-10176000	Weak transcription	NHEK	skin
41	chr2:10170800-10176200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr2:10170800-10179800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:10170800-10182000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr2:10170800-10182000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:10170800-10182400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr2:10171000-10173200	Weak transcription	Fetal Heart	heart
47	chr2:10171000-10180000	Weak transcription	Fetal Brain Male	brain
48	chr2:10171200-10175000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr2:10171200-10175200	Weak transcription	Fetal Muscle Leg	muscle
50	chr2:10171200-10176000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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