Variant report

Variant	rs7148456
Chromosome Location	chr14:104028270-104028271
allele	C/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	POLR2A	chr14:104028182-104029766	HUVEC	blood vessel:	n/a	n/a
2	POU2F2	chr14:104028019-104028556	GM12891	blood:	n/a	n/a
3	TAF1	chr14:104028177-104029827	ECC-1	luminal epithelium:	n/a	n/a
4	RCOR1	chr14:104028135-104028460	K562	blood:	n/a	n/a
5	POLR2A	chr14:104028038-104029632	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr14:104027813-104029763	HepG2	liver:	n/a	n/a
7	POLR2A	chr14:104027723-104029500	IMR90	lung:	n/a	n/a
8	POLR2A	chr14:104028220-104029493	GM12891	blood:	n/a	n/a
9	MYC	chr14:104028122-104028392	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr14:104028229-104029733	GM18951	blood:	n/a	n/a
11	E2F6	chr14:104028240-104029496	K562	blood:	n/a	chr14:104028917-104028928 chr14:104028673-104028688 chr14:104029236-104029245
12	JUND	chr14:104027577-104028272	H1-hESC	embryonic stem cell:	n/a	chr14:104027796-104027807 chr14:104027897-104027906
13	POLR2A	chr14:104028116-104029075	U87	brain:	n/a	n/a
14	SPI1	chr14:104028237-104028542	GM12878	blood:	n/a	n/a
15	YY1	chr14:104028211-104029581	GM12892	blood:	n/a	chr14:104028385-104028399 chr14:104029236-104029245 chr14:104029027-104029038 chr14:104029239-104029248 chr14:104029234-104029248
16	MYC	chr14:104028059-104028542	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr14:104028126-104029706	K562	blood:	n/a	n/a
18	MTA3	chr14:104028120-104028547	GM12878	blood:	n/a	n/a
19	UBTF	chr14:104028219-104029726	K562	blood:	n/a	n/a
20	POLR2A	chr14:104028072-104029209	GM12892	blood:	n/a	n/a
21	POLR2A	chr14:104027997-104029923	HUVEC	blood vessel:	n/a	n/a
22	MAX	chr14:104027988-104029903	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr14:104028065-104029756	GM12892	blood:	n/a	n/a
24	POLR2A	chr14:104028089-104029853	K562	blood:	n/a	n/a
25	POLR2A	chr14:104028049-104029813	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr14:104028110-104029079	U87	brain:	n/a	n/a
27	YY1	chr14:104028059-104028407	GM12878	blood:	n/a	chr14:104028385-104028399
28	MXI1	chr14:104028198-104029807	HepG2	liver:	n/a	n/a
29	EGR1	chr14:104028226-104029823	MCF-7	breast:	n/a	n/a
30	POLR2A	chr14:104028204-104029522	GM12891	blood:	n/a	n/a
31	MAX	chr14:104028125-104028282	K562	blood:	n/a	n/a
32	SIN3A	chr14:104027720-104030129	H1-hESC	embryonic stem cell:	n/a	chr14:104028758-104028771 chr14:104028792-104028805 chr14:104028844-104028855 chr14:104028533-104028544 chr14:104028851-104028864 chr14:104029113-104029126 chr14:104029095-104029108
33	MAX	chr14:104028152-104028490	NB4	blood:	n/a	n/a
34	SPI1	chr14:104027812-104028545	HL-60	blood:	n/a	chr14:104028025-104028038
35	POLR2A	chr14:104028206-104029667	GM12878	blood:	n/a	n/a
36	POLR2A	chr14:104027673-104029763	GM12878	blood:	n/a	n/a
37	POLR2A	chr14:104028070-104029710	SK-N-MC	brain:	n/a	n/a
38	SIN3AK20	chr14:104028035-104029746	SK-N-SH	brain:	n/a	n/a
39	WRNIP1	chr14:104027830-104028558	GM12878	blood:	n/a	n/a
40	POLR2A	chr14:104028182-104029832	HUVEC	blood vessel:	n/a	n/a
41	ARID3A	chr14:104028209-104028400	HepG2	liver:	n/a	n/a
42	CREB1	chr14:104028237-104029803	HepG2	liver:	n/a	n/a
43	CTCF	chr14:104028220-104028370	GM12872	blood:	n/a	n/a
44	CTCF	chr14:104028180-104028330	HCPEpiC	choroid plexus:	n/a	n/a
45	POLR2A	chr14:104028112-104029732	GM18505	blood:	n/a	n/a
46	SPI1	chr14:104028237-104028507	GM12891	blood:	n/a	n/a
47	HDAC2	chr14:104028201-104029826	MCF-7	breast:	n/a	n/a
48	HCFC1	chr14:104027237-104030166	Hela-S3	cervix:	n/a	n/a
49	SIN3AK20	chr14:104027394-104030066	MCF-7	breast:	n/a	n/a
50	GABPA	chr14:104028254-104029223	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:104026845..104031617-chr14:104090112..104098528,12	MCF-7	breast:
2	chr14:104016689..104020988-chr14:104027518..104030448,6	MCF-7	breast:
3	chr14:103983696..103988397-chr14:104026059..104029809,6	K562	blood:
4	chr14:103992721..103998040-chr14:104027797..104030842,4	MCF-7	breast:
5	chr14:104026026..104030833-chr14:104180410..104184978,6	MCF-7	breast:
6	chr14:103799415..103801924-chr14:104027086..104029565,3	MCF-7	breast:
7	chr14:104018005..104022715-chr14:104023184..104028959,7	K562	blood:
8	chr14:104026574..104032100-chr14:104033737..104038565,9	MCF-7	breast:
9	chr14:103985364..103989946-chr14:104026445..104030227,8	MCF-7	breast:
10	chr14:104027061..104029959-chr14:104033088..104037337,3	K562	blood:
11	chr14:104027610..104029440-chr14:104145265..104147418,2	MCF-7	breast:
12	chr14:104027886..104033252-chr14:104178637..104183670,7	MCF-7	breast:
13	chr14:104027275..104029645-chr9:131939860..131941591,2	MCF-7	breast:
14	chr14:104026767..104030601-chr14:104092111..104097061,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256500	TF binding region
APOPT1	TF binding region
ENSG00000166165	Chromatin interaction
ENSG00000188483	Chromatin interaction
ENSG00000126215	Chromatin interaction
ENSG00000256053	Chromatin interaction
ENSG00000201184	Chromatin interaction
ENSG00000166166	Chromatin interaction
ENSG00000258851	Chromatin interaction
ENSG00000100664	Chromatin interaction
ENSG00000260285	Chromatin interaction
ENSG00000126214	Chromatin interaction
ENSG00000100711	Chromatin interaction
ENSG00000269963	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10431750	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11844466	0.82[ASN][1000 genomes]
rs11846404	0.85[CHD][hapmap];0.80[JPT][hapmap];0.87[MEX][hapmap]
rs11851616	0.82[ASN][1000 genomes]
rs12884809	0.88[CHD][hapmap];0.91[MEX][hapmap]
rs12887734	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12889403	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12889721	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12890820	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12892038	0.82[ASN][1000 genomes]
rs12894729	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2273175	0.87[MEX][hapmap]
rs2274267	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2296482	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2403196	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2403197	0.92[CEU][hapmap];0.89[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];0.84[JPT][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2896487	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34026011	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34186780	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34896432	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35026580	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35229468	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35496194	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35498576	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4525427	0.81[ASN][1000 genomes]
rs4900590	0.80[JPT][hapmap]
rs4906335	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4906336	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4906337	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4906338	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4906356	0.85[CHD][hapmap];0.80[JPT][hapmap];0.87[MEX][hapmap]
rs55751606	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57072546	0.82[ASN][1000 genomes]
rs58033365	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60249782	0.82[ASN][1000 genomes]
rs67899457	0.82[ASN][1000 genomes]
rs7140568	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71417868	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs729438	0.80[CHD][hapmap]
rs8017628	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8017993	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
2	nsv832883	chr14:103927687-104120953	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv902297	chr14:103956182-104061646	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902298	chr14:103959289-104061646	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv902299	chr14:103967504-104061646	Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv902300	chr14:103967504-104205811	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
7	nsv902303	chr14:103979953-104034746	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	nsv902304	chr14:103979953-104061646	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
9	nsv902305	chr14:103979953-104073551	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
10	esv1839595	chr14:103987140-104034746	Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
11	nsv566022	chr14:104007555-104092789	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
12	nsv976818	chr14:104023424-104029394	Genic enhancers Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs7148456	MARK3	cis	cerebellum	SCAN
rs7148456	C14orf153	cis	multi-tissue	Pritchard
rs7148456	C14orf172	cis	multi-tissue	Pritchard
rs7148456	C14orf153	cis	parietal	SCAN
rs7148456	CKB	cis	multi-tissue	Pritchard
rs7148456	ZFYVE21	cis	cerebellum	SCAN
rs7148456	BAG5	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104027000-104028400	Flanking Active TSS	Brain Germinal Matrix	brain
2	chr14:104027000-104028400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr14:104027000-104028400	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr14:104027000-104028600	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr14:104027200-104028400	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr14:104027200-104028400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
7	chr14:104027200-104028400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr14:104027200-104028400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr14:104027200-104028400	Flanking Active TSS	Brain Angular Gyrus	brain
10	chr14:104027200-104028400	Flanking Active TSS	Fetal Brain Female	brain
11	chr14:104027200-104028400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
12	chr14:104027200-104028400	Flanking Active TSS	Dnd41	blood
13	chr14:104027200-104028600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr14:104027200-104028600	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr14:104027400-104028400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr14:104027400-104028400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
17	chr14:104027400-104028400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr14:104027400-104028400	Flanking Active TSS	Osteobl	bone
19	chr14:104027400-104028600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr14:104027400-104030600	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr14:104027400-104030800	Active TSS	H1 Cell Line	embryonic stem cell
22	chr14:104027400-104030800	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr14:104027600-104028400	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr14:104027600-104028400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr14:104027600-104028400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
26	chr14:104027600-104028400	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr14:104027600-104028400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr14:104027600-104028400	Flanking Active TSS	Fetal Muscle Trunk	muscle
29	chr14:104027600-104028400	Flanking Active TSS	Placenta	Placenta
30	chr14:104027600-104028400	Flanking Active TSS	Pancreas	Pancrea
31	chr14:104027600-104028400	Flanking Active TSS	Placenta Amnion	Placenta Amnion
32	chr14:104027600-104028600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
33	chr14:104027600-104028600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr14:104027600-104028600	Flanking Active TSS	Brain Substantia Nigra	brain
35	chr14:104027600-104028600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr14:104027600-104028600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr14:104027600-104030200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr14:104027600-104030200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr14:104027600-104030200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr14:104027600-104030400	Active TSS	H9 Cell Line	embryonic stem cell
41	chr14:104027600-104030400	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr14:104027600-104030400	Active TSS	Esophagus	oesophagus
43	chr14:104027600-104030600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr14:104027600-104030800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr14:104027600-104030800	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr14:104027600-104030800	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr14:104027600-104030800	Active TSS	NHLF	lung
48	chr14:104027800-104028400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr14:104027800-104028400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr14:104027800-104028400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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