Variant report

Variant	rs11847628
Chromosome Location	chr14:68284075-68284076
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr14:68282437-68284130	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr14:68282610-68284218	GM12878	blood:	n/a	n/a
3	REST	chr14:68282286-68284191	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr14:68283064-68284176	Raji	blood:	n/a	n/a
5	ELF1	chr14:68282993-68284157	MCF-7	breast:	n/a	chr14:68283469-68283480
6	ELF1	chr14:68283788-68284079	HepG2	liver:	n/a	n/a
7	MAX	chr14:68283028-68284087	HepG2	liver:	n/a	chr14:68283422-68283431 chr14:68283422-68283431 chr14:68283420-68283433 chr14:68283422-68283431 chr14:68283219-68283229
8	YY1	chr14:68282764-68284084	H1-hESC	embryonic stem cell:	n/a	chr14:68283288-68283297 chr14:68283286-68283308
9	POLR2A	chr14:68283066-68284118	HepG2	liver:	n/a	n/a
10	ELF1	chr14:68283001-68284081	MCF-7	breast:	n/a	chr14:68283469-68283480
11	POLR2A	chr14:68282544-68284224	GM12891	blood:	n/a	n/a
12	NFIC	chr14:68282948-68284117	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:68282145..68286888-chr14:69256784..69261104,5	MCF-7	breast:
2	chr14:68193596..68197336-chr14:68281825..68284541,3	MCF-7	breast:
3	chr14:68281912..68284483-chr14:68287348..68290974,3	K562	blood:

Variant related genes	Relation type
ZFYVE26	TF binding region
RAD51B	TF binding region
ENSG00000139988	Chromatin interaction
ENSG00000182185	Chromatin interaction
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 141 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:138)

rs_ID	r²[population]
rs10130919	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10131048	0.88[CEU][hapmap];0.97[GIH][hapmap];0.80[MEX][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10132318	0.88[CEU][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10133239	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10133262	0.80[CHB][hapmap];0.81[GIH][hapmap]
rs10135927	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10136790	0.80[CHB][hapmap]
rs10137614	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10137930	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10141638	0.89[CEU][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10143455	0.80[CHB][hapmap]
rs10143843	0.80[CHB][hapmap]
rs10146380	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10150007	0.89[EUR][1000 genomes]
rs1015023	0.81[GIH][hapmap];0.87[MEX][hapmap]
rs10483805	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10873208	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11158693	0.92[CEU][hapmap];0.97[GIH][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11158695	0.88[CEU][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11158697	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11620947	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11622521	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11622535	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11622787	0.80[CHB][hapmap]
rs11623756	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11624166	0.86[GIH][hapmap];0.82[AMR][1000 genomes]
rs11626590	0.87[EUR][1000 genomes]
rs11626594	0.81[GIH][hapmap];0.94[MEX][hapmap]
rs11626769	0.89[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11626778	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11627100	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11627417	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11627565	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11844492	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11844529	0.80[CHB][hapmap]
rs11846344	0.80[CHB][hapmap]
rs11850191	0.80[CHB][hapmap]
rs11852180	0.80[CHB][hapmap]
rs12100584	0.80[CHB][hapmap]
rs12431697	0.80[CHB][hapmap]
rs12437178	0.80[CHB][hapmap]
rs12586329	0.82[AMR][1000 genomes]
rs12588401	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12886915	0.88[CEU][hapmap];0.97[GIH][hapmap];0.80[MEX][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12891047	0.88[CEU][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12891164	0.80[EUR][1000 genomes]
rs12892221	0.88[CEU][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12896666	0.88[CEU][hapmap];0.80[MEX][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1543391	0.81[GIH][hapmap]
rs17104764	0.80[CHB][hapmap]
rs17104776	0.80[CHB][hapmap]
rs17104800	0.80[CHB][hapmap]
rs17783094	0.89[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17783124	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17783160	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs181561	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs181562	0.83[EUR][1000 genomes]
rs181563	0.92[CEU][hapmap];1.00[GIH][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs181564	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs181565	0.82[GIH][hapmap];0.82[EUR][1000 genomes]
rs181566	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs181567	0.83[EUR][1000 genomes]
rs181570	0.81[CEU][hapmap];0.82[GIH][hapmap];0.83[EUR][1000 genomes]
rs181572	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs181574	0.83[EUR][1000 genomes]
rs181575	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs181576	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs1950769	0.81[GIH][hapmap];0.87[MEX][hapmap]
rs1955470	0.88[CEU][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1956345	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1956346	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1956347	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1956348	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2235962	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];0.92[JPT][hapmap];0.80[MEX][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2235963	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2235965	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2235966	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes]
rs2295108	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2331403	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28373844	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28604984	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28623567	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2874131	0.88[CEU][hapmap];0.97[GIH][hapmap];0.80[MEX][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2877369	0.80[CHB][hapmap]
rs35272075	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3742885	0.95[CHD][hapmap];0.84[JPT][hapmap]
rs4284565	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4402486	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4569184	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4902517	0.88[CEU][hapmap];0.97[GIH][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4902518	0.81[AMR][1000 genomes]
rs4902519	0.88[CEU][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4902523	0.95[CHD][hapmap];0.84[JPT][hapmap]
rs4902535	0.80[CHB][hapmap]
rs4902536	0.80[CHB][hapmap]
rs4902538	0.80[CHB][hapmap]
rs4902540	0.80[CHB][hapmap]
rs55999745	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6573805	0.80[CHB][hapmap]
rs7142112	0.80[CHB][hapmap]
rs7142210	0.80[CHB][hapmap]
rs7142433	0.80[EUR][1000 genomes]
rs7143496	0.81[GIH][hapmap]
rs7146354	0.80[CHB][hapmap]
rs7149482	0.89[CEU][hapmap];0.82[GIH][hapmap];0.84[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7149796	0.84[JPT][hapmap]
rs7151091	0.86[GIH][hapmap];0.87[MEX][hapmap]
rs7154635	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7154646	0.80[CHB][hapmap]
rs7155097	0.80[CHB][hapmap]
rs7155840	0.80[CHB][hapmap]
rs7157288	0.82[AMR][1000 genomes]
rs7158544	0.80[CHB][hapmap]
rs7159109	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7159622	0.80[EUR][1000 genomes]
rs7160196	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72723196	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72725103	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72725114	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs767972	0.88[CEU][hapmap];0.97[GIH][hapmap];0.80[MEX][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8003431	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8004611	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8006089	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.90[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8007989	0.84[JPT][hapmap]
rs8010086	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8011120	0.84[CEU][hapmap]
rs8011393	1.00[CEU][hapmap]
rs8011690	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8012974	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8015595	0.84[JPT][hapmap]
rs8016525	0.80[CHB][hapmap]
rs8017013	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8018709	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9323501	0.80[CHB][hapmap]
rs932555	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs961700	0.86[GIH][hapmap]
rs9672142	0.80[CHB][hapmap]
rs986382	0.84[AMR][1000 genomes]

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	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1054697	chr14:68202004-68345982	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11847628	PIGH	cis	parietal	SCAN
rs11847628	CHURC1	cis	parietal	SCAN
rs11847628	FAM71D	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68281400-68284200	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr14:68281600-68284200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:68282200-68284200	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr14:68282200-68284200	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr14:68282400-68284200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:68282400-68284200	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr14:68282400-68284200	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr14:68282400-68284400	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr14:68282600-68284200	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr14:68282600-68284200	Active TSS	H1 Cell Line	embryonic stem cell
11	chr14:68282600-68284200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:68282600-68284200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:68282600-68284200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr14:68282600-68284200	Active TSS	Muscle Satellite Cultured Cells	--
15	chr14:68282600-68284200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr14:68282600-68284200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:68282600-68284200	Active TSS	Fetal Brain Female	brain
18	chr14:68282600-68284200	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr14:68282600-68284200	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr14:68282600-68284200	Active TSS	A549	lung
21	chr14:68282600-68284200	Active TSS	NHEK	skin
22	chr14:68282600-68284400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr14:68282800-68284200	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr14:68282800-68284200	Active TSS	Brain Anterior Caudate	brain
25	chr14:68282800-68284200	Active TSS	Brain Germinal Matrix	brain
26	chr14:68282800-68284200	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr14:68282800-68284200	Active TSS	Colonic Mucosa	Colon
28	chr14:68282800-68284200	Active TSS	Pancreas	Pancrea
29	chr14:68283400-68284200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr14:68283600-68284200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr14:68283600-68284200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr14:68283600-68284200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr14:68283600-68284200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr14:68283600-68284200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr14:68283600-68284200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr14:68283600-68284200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr14:68283600-68284200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr14:68283600-68284200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr14:68283600-68284200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr14:68283600-68284200	Flanking Active TSS	Hela-S3	cervix
41	chr14:68283600-68284200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr14:68283600-68284400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr14:68283600-68284400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr14:68283600-68284600	Enhancers	Spleen	Spleen
45	chr14:68283600-68286400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr14:68283800-68284200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr14:68283800-68284200	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr14:68283800-68284200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr14:68283800-68284200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr14:68283800-68284200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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