Variant report

Variant	rs1382973
Chromosome Location	chr14:56685800-56685801
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:56583632..56587463-chr14:56682572..56685944,3	K562	blood:
2	chr14:56648236..56651090-chr14:56684410..56686125,2	K562	blood:
3	chr14:56684475..56686514-chr14:56687367..56688980,2	MCF-7	breast:
4	chr14:56558435..56560127-chr14:56683877..56686792,2	K562	blood:
5	chr14:56660081..56671301-chr14:56679407..56688474,29	K562	blood:
6	chr14:56683693..56686050-chr14:56732906..56735340,3	K562	blood:
7	chr14:56653021..56655091-chr14:56684495..56686512,2	K562	blood:
8	chr14:56643621..56646971-chr14:56684832..56688465,3	K562	blood:
9	chr14:56617611..56619995-chr14:56685329..56687097,2	K562	blood:
10	chr14:56649381..56651090-chr14:56683984..56685910,2	K562	blood:
11	chr14:55567781..55570469-chr14:56684263..56686349,2	K562	blood:
12	chr14:56683808..56686742-chr14:56806746..56810669,4	K562	blood:
13	chr14:56682950..56686816-chr14:56706117..56709663,3	K562	blood:
14	chr14:56684044..56686281-chr14:56718525..56720474,2	K562	blood:
15	chr14:56683722..56686050-chr14:56732906..56735340,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000139946	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10134875	0.80[EUR][1000 genomes]
rs10150333	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];0.91[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.94[EUR][1000 genomes]
rs10782430	0.83[TSI][hapmap]
rs11158077	0.83[TSI][hapmap]
rs11158082	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158083	0.82[EUR][1000 genomes]
rs11158084	0.82[EUR][1000 genomes]
rs11158085	0.80[EUR][1000 genomes]
rs11158086	0.81[TSI][hapmap]
rs1117310	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1152467	0.89[GIH][hapmap]
rs11622543	0.82[EUR][1000 genomes]
rs11622592	0.81[EUR][1000 genomes]
rs11623431	0.81[TSI][hapmap]
rs11625060	0.82[EUR][1000 genomes]
rs11627174	0.81[EUR][1000 genomes]
rs11627782	0.82[EUR][1000 genomes]
rs11627862	0.83[TSI][hapmap]
rs11845193	0.81[TSI][hapmap]
rs11847205	0.83[TSI][hapmap]
rs12432184	0.83[TSI][hapmap];0.81[EUR][1000 genomes]
rs12877991	0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs12879359	0.82[EUR][1000 genomes]
rs12879637	0.82[EUR][1000 genomes]
rs12880559	0.82[EUR][1000 genomes]
rs12888052	0.81[EUR][1000 genomes]
rs12888145	0.82[EUR][1000 genomes]
rs12893611	0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs12894921	0.82[EUR][1000 genomes]
rs12897424	0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs1471496	0.82[EUR][1000 genomes]
rs1471497	0.82[EUR][1000 genomes]
rs1479744	0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs1479745	0.83[TSI][hapmap];0.81[EUR][1000 genomes]
rs1479746	0.80[TSI][hapmap];0.81[EUR][1000 genomes]
rs1479747	0.80[EUR][1000 genomes]
rs1479748	0.83[TSI][hapmap];0.81[EUR][1000 genomes]
rs17254064	0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs173352	0.91[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap]
rs1953210	0.82[EUR][1000 genomes]
rs1953211	0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs1979420	0.89[ASW][hapmap]
rs2054491	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2054492	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2086324	0.81[EUR][1000 genomes]
rs2086325	0.81[EUR][1000 genomes]
rs2086326	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs242412	0.89[TSI][hapmap]
rs242420	0.93[EUR][1000 genomes]
rs242421	0.81[TSI][hapmap]
rs242578	0.95[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs242583	0.87[ASN][1000 genomes]
rs242592	0.89[ASW][hapmap]
rs2880664	0.81[EUR][1000 genomes]
rs3783665	0.83[TSI][hapmap]
rs3783669	0.81[EUR][1000 genomes]
rs3783674	0.82[EUR][1000 genomes]
rs3783675	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs3783676	0.82[EUR][1000 genomes]
rs3844020	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs3895330	0.83[TSI][hapmap]
rs3912199	0.81[TSI][hapmap]
rs3912200	0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs3912201	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs4143949	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs429676	0.89[ASW][hapmap]
rs4526946	0.81[EUR][1000 genomes]
rs4898882	0.81[TSI][hapmap]
rs4898890	0.83[TSI][hapmap]
rs4898891	0.83[TSI][hapmap];0.80[EUR][1000 genomes]
rs4898892	0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs4901656	0.82[EUR][1000 genomes]
rs4901657	0.81[EUR][1000 genomes]
rs4901658	0.81[EUR][1000 genomes]
rs4901659	0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs7140444	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs7142227	0.83[TSI][hapmap]
rs7143399	0.80[EUR][1000 genomes]
rs7143757	0.81[EUR][1000 genomes]
rs7144183	0.81[EUR][1000 genomes]
rs7145330	1.00[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7148928	0.81[EUR][1000 genomes]
rs7151741	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[EUR][1000 genomes]
rs715756	0.81[TSI][hapmap]
rs7158482	0.81[EUR][1000 genomes]
rs7160779	0.81[EUR][1000 genomes]
rs7161695	0.81[EUR][1000 genomes]
rs7161696	0.81[EUR][1000 genomes]
rs754689	0.89[ASW][hapmap]
rs8014215	0.81[EUR][1000 genomes]
rs8014516	0.82[EUR][1000 genomes]
rs8014536	0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs8015177	0.82[EUR][1000 genomes]
rs8015347	0.82[EUR][1000 genomes]
rs8016951	0.83[TSI][hapmap]
rs899604	0.91[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9646155	0.80[MEX][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs975291	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1844788	chr14:56594420-56771207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1382973	CDKN3	cis	parietal	SCAN
rs1382973	GNPNAT1	cis	cerebellum	SCAN
rs1382973	C14orf33	cis	cerebellum	SCAN

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56662600-56693000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr14:56665400-56691600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:56673000-56694600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr14:56673400-56694600	Weak transcription	Primary B cells from cord blood	blood
5	chr14:56675000-56686800	Weak transcription	Aorta	Aorta
6	chr14:56675600-56686200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr14:56678200-56686200	Weak transcription	Right Atrium	heart
8	chr14:56679000-56688800	Enhancers	Fetal Thymus	thymus
9	chr14:56679600-56686800	Weak transcription	Spleen	Spleen
10	chr14:56679800-56686800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:56681000-56686000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr14:56681000-56686200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:56681000-56688800	Enhancers	Brain Germinal Matrix	brain
14	chr14:56681000-56689000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr14:56681200-56689600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr14:56681400-56687200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr14:56681600-56687800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr14:56682000-56689200	Enhancers	Primary hematopoietic stem cells	blood
19	chr14:56682000-56689800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr14:56682200-56687800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr14:56682200-56688200	Enhancers	Brain Angular Gyrus	brain
22	chr14:56682200-56699200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr14:56682400-56686800	Enhancers	Ovary	ovary
24	chr14:56682400-56686800	Enhancers	Rectal Smooth Muscle	rectum
25	chr14:56682600-56688200	Enhancers	Brain Substantia Nigra	brain
26	chr14:56682600-56688400	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr14:56682600-56688800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:56682800-56686600	Enhancers	Brain Hippocampus Middle	brain
29	chr14:56682800-56688200	Enhancers	Colon Smooth Muscle	Colon
30	chr14:56682800-56688200	Enhancers	Fetal Brain Male	brain
31	chr14:56682800-56688400	Enhancers	Brain Anterior Caudate	brain
32	chr14:56682800-56688400	Enhancers	Brain Cingulate Gyrus	brain
33	chr14:56683000-56686400	Enhancers	K562	blood
34	chr14:56683000-56689600	Enhancers	Adipose Nuclei	Adipose
35	chr14:56683400-56688200	Enhancers	Pancreas	Pancrea
36	chr14:56683600-56686200	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr14:56684000-56689200	Enhancers	Fetal Lung	lung
38	chr14:56684200-56686600	Weak transcription	Fetal Intestine Large	intestine
39	chr14:56684200-56686800	Weak transcription	Left Ventricle	heart
40	chr14:56684200-56686800	Weak transcription	Right Ventricle	heart
41	chr14:56684200-56686800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr14:56684200-56687600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr14:56684200-56687600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr14:56684200-56689000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr14:56684200-56689400	Weak transcription	Esophagus	oesophagus
46	chr14:56684400-56686200	Weak transcription	Fetal Intestine Small	intestine
47	chr14:56684400-56686200	Weak transcription	Gastric	stomach
48	chr14:56684400-56686200	Weak transcription	Stomach Mucosa	stomach
49	chr14:56684400-56686600	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr14:56684400-56686600	Weak transcription	HUVEC	blood vessel

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