Variant report

Variant	rs11851414
Chromosome Location	chr14:69259502-69259503
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	chr14:69258910-69261726	MCF-7	breast:	n/a	n/a
2	NFIC	chr14:69258747-69263739	GM12878	blood:	n/a	n/a
3	POLR2A	chr14:69250963-69263207	U87	brain:	n/a	n/a
4	JUND	chr14:69258904-69261961	HCT-116	colon:	n/a	chr14:69259933-69259942 chr14:69260177-69260186 chr14:69261262-69261271
5	POLR2A	chr14:69259421-69260516	SK-N-MC	brain:	n/a	n/a
6	JUN	chr14:69259457-69260853	K562	blood:	n/a	chr14:69260176-69260189 chr14:69259933-69259942 chr14:69260177-69260186
7	PBX3	chr14:69258047-69262185	A549	lung:	n/a	n/a
8	TAF1	chr14:69258894-69260546	A549	lung:	n/a	n/a
9	RELA	chr14:69258539-69263496	GM12891	blood:	n/a	n/a
10	BHLHE40	chr14:69259293-69263433	GM12878	blood:	n/a	n/a
11	BCL3	chr14:69259463-69260333	GM12878	blood:	n/a	chr14:69259937-69259950 chr14:69260268-69260281 chr14:69259582-69259591
12	MAX	chr14:69259345-69263353	K562	blood:	n/a	n/a
13	MAX	chr14:69259154-69261941	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr14:69258369-69259894	GM12891	blood:	n/a	n/a
15	MAX	chr14:69259454-69259743	K562	blood:	n/a	n/a
16	PML	chr14:69258860-69263235	MCF-7	breast:	n/a	n/a
17	POLR2A	chr14:69254988-69263278	GM12892	blood:	n/a	n/a
18	POLR2A	chr14:69258876-69259885	A549	lung:	n/a	n/a
19	PML	chr14:69259443-69260409	K562	blood:	n/a	n/a
20	TEAD4	chr14:69259427-69259995	A549	lung:	n/a	n/a
21	POLR2A	chr14:69255614-69263201	ECC-1	luminal epithelium:	n/a	n/a
22	POLR2A	chr14:69254928-69263445	GM12892	blood:	n/a	n/a
23	EP300	chr14:69258805-69263522	ECC-1	luminal epithelium:	n/a	chr14:69260104-69260120 chr14:69260038-69260052 chr14:69261261-69261270 chr14:69260641-69260657 chr14:69259995-69260009 chr14:69260648-69260657
24	POLR2A	chr14:69257221-69263637	MCF10A-Er-Src	breast:	n/a	n/a
25	RAD21	chr14:69259487-69260484	H1-hESC	embryonic stem cell:	n/a	n/a
26	ZNF143	chr14:69258990-69259861	Hela-S3	cervix:	n/a	chr14:69259749-69259767 chr14:69259830-69259848
27	EP300	chr14:69259106-69262013	GM12878	blood:	n/a	chr14:69260104-69260120 chr14:69260038-69260052 chr14:69261261-69261270 chr14:69260641-69260657 chr14:69259995-69260009 chr14:69260648-69260657
28	POU2F2	chr14:69259437-69262005	GM12891	blood:	n/a	chr14:69260641-69260653 chr14:69261039-69261051 chr14:69259924-69259936
29	MTA3	chr14:69254975-69264454	GM12878	blood:	n/a	n/a
30	TAF7	chr14:69259213-69259982	H1-hESC	embryonic stem cell:	n/a	n/a
31	ZMIZ1	chr14:69259366-69260318	K562	blood:	n/a	n/a
32	POLR2A	chr14:69257126-69263442	GM12891	blood:	n/a	n/a
33	CREB1	chr14:69259245-69263453	GM12878	blood:	n/a	chr14:69260175-69260188
34	YY1	chr14:69259488-69260553	H1-hESC	embryonic stem cell:	n/a	chr14:69259714-69259728 chr14:69259973-69259984 chr14:69260132-69260143
35	TCF12	chr14:69259469-69260380	GM12878	blood:	n/a	n/a
36	MAX	chr14:69259255-69261823	HepG2	liver:	n/a	n/a
37	HDAC2	chr14:69257848-69261541	MCF-7	breast:	n/a	chr14:69260034-69260048 chr14:69260037-69260051 chr14:69260032-69260046 chr14:69260036-69260050 chr14:69258035-69258049 chr14:69260118-69260127 chr14:69260038-69260052 chr14:69258424-69258438 chr14:69260039-69260053 chr14:69260035-69260049 chr14:69258425-69258439
38	FOXM1	chr14:69257771-69260503	MCF-7	breast:	n/a	n/a
39	POLR2A	chr14:69258806-69259881	GM12878	blood:	n/a	n/a
40	POLR2A	chr14:69256736-69263833	Raji	blood:	n/a	n/a
41	POLR2A	chr14:69255146-69263257	GM18526	blood:	n/a	n/a
42	FOXM1	chr14:69259491-69260667	ECC-1	luminal epithelium:	n/a	n/a
43	ZBTB7A	chr14:69258972-69261876	ECC-1	luminal epithelium:	n/a	chr14:69260142-69260151 chr14:69260099-69260108
44	HEY1	chr14:69257251-69263120	HepG2	liver:	n/a	chr14:69260559-69260574 chr14:69260178-69260187 chr14:69260176-69260185
45	NFATC1	chr14:69255663-69260669	GM12878	blood:	n/a	n/a
46	E2F6	chr14:69259456-69261717	K562	blood:	n/a	chr14:69261029-69261037 chr14:69261029-69261036 chr14:69260178-69260187 chr14:69261029-69261040 chr14:69260176-69260185 chr14:69261028-69261038 chr14:69260617-69260627 chr14:69261030-69261041 chr14:69260141-69260150 chr14:69261029-69261037 chr14:69261028-69261039
47	FOXM1	chr14:69259272-69263580	GM12878	blood:	n/a	chr14:69261347-69261355
48	POLR2A	chr14:69259475-69263112	K562	blood:	n/a	n/a
49	POLR2A	chr14:69258790-69262017	HepG2	liver:	n/a	n/a
50	YY1	chr14:69259433-69260684	GM12878	blood:	n/a	chr14:69260557-69260566 chr14:69259714-69259728 chr14:69260620-69260634 chr14:69259973-69259984 chr14:69260132-69260143

No.	Distal block	Cell Line	Cell type
1	chr14:69090615..69103406-chr14:69249821..69264188,29	MCF-7	breast:
2	chr11:116706093..116706992-chr14:69259296..69260170,2	HCT-116	colon:
3	chr14:69235719..69238607-chr14:69258335..69259856,2	MCF-7	breast:
4	chr14:68915233..68917700-chr14:69258123..69259734,2	K562	blood:
5	chr14:68350452..68352881-chr14:69258194..69261622,3	MCF-7	breast:
6	chr14:69259233..69260141-chr15:72668206..72669170,2	Hela-S3	cervix:
7	chr14:68930492..68947840-chr14:69251918..69264148,62	MCF-7	breast:
8	chr14:69259232..69261632-chr8:144820285..144822517,2	MCF-7	breast:
9	chr1:78149013..78149635-chr14:69259457..69260104,2	Hela-S3	cervix:
10	chr14:69149566..69152941-chr14:69256310..69260478,3	MCF-7	breast:
11	chr14:68282145..68286888-chr14:69256784..69261104,5	MCF-7	breast:
12	chr14:69257700..69260072-chr17:1618563..1621459,2	MCF-7	breast:
13	chr14:69259416..69259940-chr3:119814073..119814926,2	Hela-S3	cervix:
14	chr14:69259268..69260162-chr7:5569495..5570349,2	HCT-116	colon:
15	chr14:69091753..69104091-chr14:69256141..69263760,20	MCF-7	breast:
16	chr14:69258203..69260706-chr17:56707780..56709362,2	MCF-7	breast:
17	chr14:69259502..69261269-chr3:45051532..45054182,2	MCF-7	breast:
18	chr14:68352272..68355022-chr14:69258244..69262334,3	MCF-7	breast:
19	chr14:69259346..69259952-chr17:29421438..29422058,2	HCT-116	colon:
20	chr1:242011436..242011965-chr14:69259007..69259799,2	Hela-S3	cervix:
21	chr12:69004642..69006364-chr14:69258588..69260544,2	MCF-7	breast:
22	chr14:69259303..69260182-chr17:4710143..4710912,2	Hela-S3	cervix:
23	chr14:68331430..68334740-chr14:69259249..69262451,3	MCF-7	breast:
24	chr14:69258720..69263996-chr17:57918463..57922385,5	MCF-7	breast:
25	chr14:68853558..68855258-chr14:69259341..69263299,3	MCF-7	breast:
26	chr13:103248438..103249384-chr14:69259437..69260196,2	HCT-116	colon:
27	chr14:69259073..69259826-chr7:148958357..148959214,2	Hela-S3	cervix:
28	chr14:69208318..69211269-chr14:69258281..69259846,2	MCF-7	breast:
29	chr12:110150683..110153052-chr14:69259292..69261807,2	MCF-7	breast:
30	chr14:55595591..55597639-chr14:69257922..69259895,2	MCF-7	breast:
31	chr1:11969348..11970020-chr14:69259365..69260328,2	HCT-116	colon:

Variant related genes	Relation type
ZFP36L1	TF binding region
ENSG00000259038	Chromatin interaction
ENSG00000131981	Chromatin interaction
ENSG00000199004	Chromatin interaction
ENSG00000174371	Chromatin interaction
ENSG00000235910	Chromatin interaction
ENSG00000182185	Chromatin interaction
ENSG00000075914	Chromatin interaction
ENSG00000265444	Chromatin interaction
ENSG00000134900	Chromatin interaction
ENSG00000139438	Chromatin interaction
ENSG00000262165	Chromatin interaction
ENSG00000203499	Chromatin interaction
ENSG00000201801	Chromatin interaction
ENSG00000196712	Chromatin interaction
ENSG00000127314	Chromatin interaction
ENSG00000129219	Chromatin interaction
ENSG00000258623	Chromatin interaction
ENSG00000186594	Chromatin interaction
ENSG00000260729	Chromatin interaction
ENSG00000036549	Chromatin interaction
ENSG00000167716	Chromatin interaction
ENSG00000213614	Chromatin interaction
ENSG00000260339	Chromatin interaction
ENSG00000075624	Chromatin interaction
ENSG00000242622	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000072121	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10139199	0.87[GIH][hapmap]
rs1051533	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158763	1.00[JPT][hapmap]
rs11847049	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12148044	0.91[MEX][hapmap]
rs17757282	0.91[MEX][hapmap]
rs2164627	0.83[EUR][1000 genomes]
rs4899260	0.87[GIH][hapmap]
rs4902649	0.89[YRI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57786342	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72731554	0.88[EUR][1000 genomes]
rs8013475	1.00[ASN][1000 genomes]
rs8019383	0.87[GIH][hapmap]
rs971290	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][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	nsv1035267	chr14:69230254-69348126	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv542123	chr14:69230254-69348126	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	nsv902070	chr14:69244214-69308182	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11851414	KIAA0247	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69253800-69259800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
2	chr14:69254000-69259600	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
3	chr14:69254200-69259600	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
4	chr14:69254200-69259600	Transcr. at gene 5' and 3'	Fetal Lung	lung
5	chr14:69254200-69259800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr14:69255000-69259600	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
7	chr14:69255000-69259800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:69255000-69260400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
9	chr14:69255000-69262400	Active TSS	Right Atrium	heart
10	chr14:69255400-69259800	Transcr. at gene 5' and 3'	NHEK	skin
11	chr14:69255400-69263200	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr14:69255800-69259600	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
13	chr14:69255800-69259800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
14	chr14:69256200-69263000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr14:69256400-69259600	Active TSS	Brain Anterior Caudate	brain
16	chr14:69256400-69263200	Active TSS	Primary T cells from cord blood	blood
17	chr14:69256600-69260600	Active TSS	NH-A	brain
18	chr14:69256600-69263000	Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr14:69256800-69259800	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
20	chr14:69256800-69260800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
21	chr14:69256800-69263200	Active TSS	Small Intestine	intestine
22	chr14:69257000-69260400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr14:69257000-69260800	Active TSS	HSMMtube	muscle
24	chr14:69257200-69259600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr14:69257200-69259800	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr14:69257200-69261400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr14:69257200-69263200	Active TSS	Aorta	Aorta
28	chr14:69257200-69263400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr14:69257200-69263600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
30	chr14:69257200-69263800	Active TSS	H9 Cell Line	embryonic stem cell
31	chr14:69257400-69259600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr14:69257400-69259800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr14:69257400-69260800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr14:69257400-69260800	Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr14:69257400-69261200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
36	chr14:69257400-69262800	Active TSS	Rectal Mucosa Donor 31	rectum
37	chr14:69257400-69263000	Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr14:69257400-69263200	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr14:69257400-69263200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr14:69257400-69263200	Active TSS	Ovary	ovary
41	chr14:69257400-69263200	Active TSS	Spleen	Spleen
42	chr14:69257400-69263400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr14:69257600-69259800	Flanking Active TSS	Dnd41	blood
44	chr14:69257600-69260200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr14:69257600-69260800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr14:69257600-69260800	Active TSS	Fetal Heart	heart
47	chr14:69257600-69261000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr14:69257600-69263000	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr14:69257600-69263000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr14:69257600-69263000	Active TSS	Pancreas	Pancrea

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