Variant report

Variant	rs1204995
Chromosome Location	chr14:72187850-72187851
allele	A/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:72187408..72187995-chr14:72322024..72322774,2	MCF-7	breast:
2	chr14:72187814..72188399-chr14:72363716..72364677,2	MCF-7	breast:
3	chr14:72187378..72188332-chr14:72219491..72220175,6	MCF-7	breast:
4	chr14:72187451..72188332-chr14:72219569..72220358,3	MCF-7	breast:
5	chr14:72187470..72188121-chr14:72398583..72399163,2	MCF-7	breast:
6	chr14:72187360..72190029-chr14:72192852..72194712,2	K562	blood:
7	chr14:71786596..71788325-chr14:72186676..72189206,2	MCF-7	breast:
8	chr14:72187526..72188327-chr14:72200540..72201200,2	K562	blood:
9	chr14:72187391..72188297-chr14:72219689..72220392,3	K562	blood:
10	chr14:72186285..72190344-chr14:72190566..72195953,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000182732	Chromatin interaction
ENSG00000197555	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1005605	0.91[ASN][1000 genomes]
rs10132111	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10133626	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10137642	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10139519	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1204988	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1204992	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1204996	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1204997	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12880188	0.86[CHD][hapmap];1.00[JPT][hapmap]
rs1468373	0.91[ASN][1000 genomes]
rs1981588	0.86[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs2286135	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2286136	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3784064	0.86[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs3825719	0.86[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs4140799	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4899398	0.86[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs7140501	1.00[JPT][hapmap]
rs7142343	0.86[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7156313	1.00[JPT][hapmap]
rs7350725	0.92[CEU][hapmap];0.81[CHD][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes]
rs757744	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8015004	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9672060	0.86[CHD][hapmap];1.00[JPT][hapmap]

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	esv3398985	chr14:71927884-72404676	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1047559	chr14:72151736-72282151	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1204995	ACOT2	cis	parietal	SCAN
rs1204995	PCNX	cis	parietal	SCAN
rs1204995	PCNX	cis	cerebellum	SCAN

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72118600-72191400	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr14:72129400-72196800	Weak transcription	Right Ventricle	heart
3	chr14:72142000-72191400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr14:72148200-72200400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:72151600-72188000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:72160200-72191400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr14:72160200-72202000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr14:72165200-72202000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr14:72166800-72196400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr14:72167400-72191000	Weak transcription	Fetal Thymus	thymus
11	chr14:72168000-72191800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr14:72168800-72201600	Weak transcription	Stomach Mucosa	stomach
13	chr14:72169200-72191400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr14:72170600-72192200	Weak transcription	Fetal Brain Male	brain
15	chr14:72172000-72196800	Weak transcription	Colonic Mucosa	Colon
16	chr14:72172600-72188000	Weak transcription	Gastric	stomach
17	chr14:72172600-72189200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr14:72172600-72191400	Weak transcription	Fetal Brain Female	brain
19	chr14:72172800-72188000	Weak transcription	Spleen	Spleen
20	chr14:72176400-72188400	Weak transcription	Lung	lung
21	chr14:72176400-72190400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr14:72176400-72191600	Weak transcription	Pancreas	Pancrea
23	chr14:72176400-72194200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr14:72176400-72197000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr14:72176400-72200000	Weak transcription	Small Intestine	intestine
26	chr14:72176600-72188000	Weak transcription	Esophagus	oesophagus
27	chr14:72176600-72189800	Weak transcription	HepG2	liver
28	chr14:72176600-72191600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr14:72176800-72188800	Weak transcription	Fetal Intestine Large	intestine
30	chr14:72177000-72188000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr14:72177200-72188000	Weak transcription	Fetal Muscle Trunk	muscle
32	chr14:72177200-72190200	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr14:72177200-72191400	Weak transcription	Left Ventricle	heart
34	chr14:72177200-72191400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr14:72177200-72196800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr14:72177400-72191200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr14:72178000-72188200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr14:72178000-72190000	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr14:72178000-72190200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr14:72178200-72188600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr14:72178200-72191000	Weak transcription	Hela-S3	cervix
42	chr14:72178600-72188000	Weak transcription	Placenta	Placenta
43	chr14:72178800-72188000	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr14:72178800-72191200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr14:72178800-72191400	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr14:72178800-72191400	Weak transcription	Colon Smooth Muscle	Colon
47	chr14:72178800-72193400	Weak transcription	Fetal Heart	heart
48	chr14:72179000-72189800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:72179000-72191000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr14:72179000-72191400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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