Variant report

Variant	rs7150876
Chromosome Location	chr14:31890399-31890400
allele	A/C
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	POLR2A	chr14:31889367-31890414	GM12878	blood:	n/a	n/a
2	HCFC1	chr14:31888131-31890973	Hela-S3	cervix:	n/a	n/a
3	BHLHE40	chr14:31889581-31890436	GM12878	blood:	n/a	n/a
4	JUN	chr14:31889639-31890585	K562	blood:	n/a	n/a
5	MXI1	chr14:31888926-31890479	GM12878	blood:	n/a	n/a
6	FOXA2	chr14:31890097-31891374	HepG2	liver:	n/a	n/a
7	HEY1	chr14:31888878-31890863	HepG2	liver:	n/a	chr14:31889322-31889337 chr14:31889202-31889217 chr14:31889200-31889215
8	MAFK	chr14:31889601-31890614	HepG2	liver:	n/a	n/a
9	MAFK	chr14:31888997-31890544	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr14:31888350-31890652	MCF10A-Er-Src	breast:	n/a	n/a
11	RCOR1	chr14:31889154-31890620	K562	blood:	n/a	n/a
12	MAX	chr14:31889036-31890423	Hela-S3	cervix:	n/a	chr14:31889804-31889813 chr14:31889792-31889802
13	EP300	chr14:31889661-31890464	GM12878	blood:	n/a	chr14:31889765-31889774 chr14:31889763-31889772 chr14:31889870-31889886 chr14:31889871-31889887
14	TBP	chr14:31889567-31890406	GM12878	blood:	n/a	n/a
15	MAFK	chr14:31889425-31890454	HepG2	liver:	n/a	n/a
16	FOXA1	chr14:31888897-31890930	HepG2	liver:	n/a	chr14:31888939-31888951
17	POLR2A	chr14:31888936-31891254	HepG2	liver:	n/a	n/a
18	CUX1	chr14:31889578-31890543	GM12878	blood:	n/a	n/a
19	MAX	chr14:31888972-31890421	A549	lung:	n/a	chr14:31889804-31889813 chr14:31889792-31889802
20	HDAC2	chr14:31888949-31890475	MCF-7	breast:	n/a	chr14:31889103-31889112
21	ELF1	chr14:31889525-31890445	HepG2	liver:	n/a	chr14:31889763-31889772 chr14:31889766-31889775
22	MBD4	chr14:31888678-31891351	HepG2	liver:	n/a	n/a
23	ARID3A	chr14:31888898-31891391	HepG2	liver:	n/a	n/a
24	POLR2A	chr14:31889163-31890672	HepG2	liver:	n/a	n/a
25	POLR2A	chr14:31888993-31890446	IMR90	lung:	n/a	n/a
26	IRF1	chr14:31889547-31890444	K562	blood:	n/a	chr14:31889807-31889821 chr14:31889791-31889805
27	ESRRA	chr14:31888472-31890907	GM12878	blood:	n/a	chr14:31888843-31888853 chr14:31888842-31888855 chr14:31888839-31888855 chr14:31888843-31888853
28	MXI1	chr14:31888839-31890930	IMR90	lung:	n/a	n/a
29	MAFK	chr14:31889569-31890505	IMR90	lung:	n/a	n/a
30	MAFF	chr14:31889329-31890571	HepG2	liver:	n/a	n/a
31	HNF4G	chr14:31888941-31890506	HepG2	liver:	n/a	chr14:31889337-31889352 chr14:31889338-31889351
32	POLR2A	chr14:31888943-31890851	HepG2	liver:	n/a	n/a
33	EP300	chr14:31889520-31890457	MCF-7	breast:	n/a	chr14:31889765-31889774 chr14:31889763-31889772 chr14:31889870-31889886 chr14:31889871-31889887
34	TBP	chr14:31888678-31890696	Hela-S3	cervix:	n/a	n/a
35	YY1	chr14:31889564-31890420	HepG2	liver:	n/a	chr14:31889893-31889907 chr14:31889766-31889775 chr14:31889766-31889780
36	FOXA1	chr14:31889501-31891364	HepG2	liver:	n/a	n/a
37	MAFK	chr14:31889734-31890426	K562	blood:	n/a	n/a
38	FOXM1	chr14:31889389-31890417	GM12878	blood:	n/a	n/a
39	TEAD4	chr14:31888847-31891431	HepG2	liver:	n/a	n/a
40	CREB1	chr14:31888946-31890484	HepG2	liver:	n/a	n/a
41	POLR2A	chr14:31889434-31890418	GM12892	blood:	n/a	n/a
42	POLR2A	chr14:31889512-31890751	K562	blood:	n/a	n/a
43	MBD4	chr14:31888665-31890782	HepG2	liver:	n/a	n/a
44	EBF1	chr14:31889748-31890401	GM12878	blood:	n/a	n/a
45	MXI1	chr14:31888979-31890442	HepG2	liver:	n/a	n/a
46	FOXA2	chr14:31890375-31890905	HepG2	liver:	n/a	n/a
47	BATF	chr14:31890090-31890408	GM12878	blood:	n/a	n/a
48	MYBL2	chr14:31888863-31891481	HepG2	liver:	n/a	n/a
49	POLR2A	chr14:31889120-31890450	GM12892	blood:	n/a	n/a
50	RAD21	chr14:31889672-31890417	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:31887818..31891601-chr14:31923594..31927929,15	K562	blood:
2	chr14:31890242..31892614-chr14:31901862..31904809,2	MCF-7	breast:
3	chr14:31889495..31890465-chr2:61698381..61699106,2	Hela-S3	cervix:
4	chr14:31887046..31892106-chr14:31923824..31928892,9	K562	blood:
5	chr14:31676274..31678860-chr14:31889133..31891124,4	MCF-7	breast:

Variant related genes	Relation type
HEATR5A	TF binding region
ENSG00000092148	Chromatin interaction
ENSG00000129480	Chromatin interaction
ENSG00000270820	Chromatin interaction
ENSG00000203546	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10148667	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10151837	0.81[AMR][1000 genomes]
rs10782377	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10872852	0.95[MKK][hapmap]
rs12587817	0.95[MKK][hapmap]
rs17097906	0.87[GIH][hapmap];0.82[JPT][hapmap]
rs17555805	0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2378860	1.00[GIH][hapmap];0.84[MEX][hapmap]
rs2378861	0.82[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.88[MEX][hapmap];0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4981843	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6571419	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6571420	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6571422	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.94[MEX][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7142126	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7151099	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901589	chr14:31768231-31944723	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1042776	chr14:31844026-32003929	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv542019	chr14:31844026-32003929	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv931935	chr14:31871658-32117666	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats 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 miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv1050774	chr14:31879687-32102906	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv934110	chr14:31887749-32109529	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv934206	chr14:31887749-32257097	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31887600-31890600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:31888200-31890400	Active TSS	H1 Cell Line	embryonic stem cell
3	chr14:31888200-31890400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr14:31888200-31890400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr14:31888200-31890400	Active TSS	Colonic Mucosa	Colon
6	chr14:31888200-31890400	Active TSS	Fetal Stomach	stomach
7	chr14:31888200-31890400	Active TSS	Stomach Smooth Muscle	stomach
8	chr14:31888200-31890400	Active TSS	K562	blood
9	chr14:31888200-31890600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:31888400-31890400	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr14:31888400-31890400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr14:31888400-31890400	Active TSS	Fetal Intestine Large	intestine
13	chr14:31888400-31890400	Active TSS	Fetal Muscle Leg	muscle
14	chr14:31888400-31890400	Active TSS	Placenta	Placenta
15	chr14:31888400-31890400	Active TSS	Psoas Muscle	Psoas
16	chr14:31888400-31890400	Active TSS	NH-A	brain
17	chr14:31888400-31890400	Active TSS	Osteobl	bone
18	chr14:31888600-31890400	Active TSS	H9 Cell Line	embryonic stem cell
19	chr14:31888600-31890400	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr14:31888600-31890400	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr14:31888600-31890400	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr14:31888600-31890400	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr14:31888600-31890400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
24	chr14:31888600-31890400	Active TSS	Fetal Muscle Trunk	muscle
25	chr14:31888600-31890400	Active TSS	Ovary	ovary
26	chr14:31888600-31890400	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr14:31888800-31890400	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr14:31888800-31890400	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr14:31888800-31890400	Active TSS	Primary T cells fromperipheralblood	blood
30	chr14:31888800-31890400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr14:31888800-31890400	Active TSS	Brain Substantia Nigra	brain
32	chr14:31888800-31890400	Active TSS	Fetal Brain Male	brain
33	chr14:31888800-31890600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr14:31888800-31890600	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr14:31889000-31890400	Active TSS	Brain Cingulate Gyrus	brain
36	chr14:31889000-31890400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr14:31889000-31890400	Active TSS	Pancreas	Pancrea
38	chr14:31889000-31890600	Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr14:31889400-31890400	Active TSS	Thymus	Thymus
40	chr14:31889600-31890400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr14:31889600-31890400	Active TSS	Brain Germinal Matrix	brain
42	chr14:31890000-31890400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr14:31890000-31890400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr14:31890000-31890400	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr14:31890000-31890400	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr14:31890000-31890400	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr14:31890000-31890400	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr14:31890000-31890400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr14:31890000-31890400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr14:31890000-31890400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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