Variant report

Variant	rs72882305
Chromosome Location	chr2:172273303-172273304
allele	C/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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:172009192..172011548-chr2:172270786..172273321,2	K562	blood:
2	chr2:172270914..172275149-chr2:172275462..172279658,6	K562	blood:
3	chr2:171786011..171788954-chr2:172272838..172276305,3	K562	blood:
4	chr2:172271134..172274908-chr2:172289137..172291473,5	MCF-7	breast:
5	chr2:172269451..172273904-chr2:172275650..172277742,4	K562	blood:
6	chr2:172271657..172275800-chr2:172289994..172293745,6	K562	blood:
7	chr2:172020395..172022447-chr2:172272199..172274902,2	MCF-7	breast:
8	chr2:172267840..172270296-chr2:172270765..172273449,2	K562	blood:
9	chr2:172272617..172274293-chr2:172289198..172291820,2	K562	blood:
10	chr2:172015744..172019134-chr2:172270782..172274226,5	K562	blood:
11	chr2:172016348..172019248-chr2:172270460..172274931,6	MCF-7	breast:
12	chr2:172272632..172275850-chr2:172285670..172289133,3	K562	blood:
13	chr2:172273013..172275756-chr2:172289868..172291510,2	MCF-7	breast:
14	chr2:172272632..172274572-chr2:172285670..172288180,2	K562	blood:
15	chr2:171829283..171832000-chr2:172272425..172274768,3	MCF-7	breast:
16	chr2:172271841..172274486-chr2:172281833..172284953,3	K562	blood:
17	chr2:172016440..172019134-chr2:172272291..172274226,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000123600	Chromatin interaction
ENSG00000115827	Chromatin interaction
ENSG00000198586	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10490603	0.86[ASN][1000 genomes]
rs11696032	1.00[ASN][1000 genomes]
rs16859370	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17219416	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62183546	0.89[ASN][1000 genomes]
rs72880576	0.89[ASN][1000 genomes]
rs72880595	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72882311	1.00[ASN][1000 genomes]
rs72882329	1.00[ASN][1000 genomes]
rs72882335	1.00[ASN][1000 genomes]
rs72882366	0.96[ASN][1000 genomes]
rs72882388	0.89[ASN][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	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172222200-172289600	Weak transcription	Gastric	stomach
2	chr2:172261600-172277800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:172266400-172277400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr2:172266400-172280400	Weak transcription	Esophagus	oesophagus
5	chr2:172266400-172280400	Weak transcription	Left Ventricle	heart
6	chr2:172266400-172289600	Weak transcription	Psoas Muscle	Psoas
7	chr2:172266400-172289600	Weak transcription	Right Ventricle	heart
8	chr2:172268800-172289200	Weak transcription	HSMM	muscle
9	chr2:172269000-172280400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:172269200-172280200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:172269600-172280400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:172269800-172273600	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:172271000-172274200	Enhancers	K562	blood
14	chr2:172272400-172273400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr2:172272400-172273400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr2:172272600-172275200	Weak transcription	Fetal Intestine Large	intestine
17	chr2:172272600-172277200	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr2:172272600-172277600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr2:172272600-172277600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:172272600-172278800	Weak transcription	NHEK	skin
21	chr2:172272600-172279000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:172272600-172282000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr2:172272600-172287200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:172272600-172289000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr2:172272600-172289400	Weak transcription	HSMMtube	muscle
26	chr2:172272800-172273600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr2:172272800-172273600	Flanking Active TSS	GM12878-XiMat	blood
28	chr2:172272800-172277000	Weak transcription	Primary B cells from peripheral blood	blood
29	chr2:172272800-172277600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:172272800-172277800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr2:172272800-172279000	Weak transcription	A549	lung
32	chr2:172272800-172279200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr2:172272800-172279400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr2:172273000-172275200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:172273000-172275200	Weak transcription	Fetal Intestine Small	intestine
36	chr2:172273000-172279200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr2:172273000-172280400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:172273000-172283600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:172273200-172273400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:172273200-172279200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr2:172273200-172279400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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