Variant report

Variant	rs17536948
Chromosome Location	chr14:35761279-35761280
allele	A/G
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	E2F6	chr14:35761117-35762053	A549	lung:	n/a	chr14:35761447-35761456 chr14:35761469-35761481 chr14:35761499-35761508
2	NFATC1	chr14:35761014-35761707	GM12878	blood:	n/a	n/a
3	TAF1	chr14:35761143-35762076	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr14:35761074-35762108	Hela-S3	cervix:	n/a	n/a
5	GABPA	chr14:35761180-35762063	HepG2	liver:	n/a	chr14:35761446-35761457 chr14:35761443-35761457 chr14:35761446-35761460 chr14:35761499-35761508
6	ELF1	chr14:35760999-35761875	GM12878	blood:	n/a	chr14:35761583-35761594 chr14:35761604-35761613 chr14:35761581-35761594 chr14:35761603-35761614
7	ELF1	chr14:35761063-35762188	MCF-7	breast:	n/a	chr14:35761583-35761594 chr14:35761604-35761613 chr14:35761581-35761594 chr14:35761603-35761614
8	POLR2A	chr14:35761037-35762417	HL-60	blood:	n/a	n/a
9	FOXM1	chr14:35760864-35761988	GM12878	blood:	n/a	n/a
10	POLR2A	chr14:35760996-35762148	H1-neurons	neurons:	n/a	n/a
11	RCOR1	chr14:35761157-35761876	HepG2	liver:	n/a	n/a
12	BCL3	chr14:35761106-35762076	A549	lung:	n/a	n/a
13	TAF1	chr14:35760738-35762139	HepG2	liver:	n/a	n/a
14	REST	chr14:35760707-35762231	HepG2	liver:	n/a	chr14:35761962-35761975
15	SP1	chr14:35761129-35761954	A549	lung:	n/a	chr14:35761499-35761508 chr14:35761495-35761509 chr14:35761499-35761509 chr14:35761499-35761509 chr14:35761498-35761510 chr14:35761500-35761509 chr14:35761498-35761510 chr14:35761500-35761509
16	POLR2A	chr14:35761071-35762459	PBDE	blood:	n/a	n/a
17	POLR2A	chr14:35761089-35761943	SK-N-MC	brain:	n/a	n/a
18	POLR2A	chr14:35761104-35762068	GM19193	blood:	n/a	n/a
19	POLR2A	chr14:35761251-35762021	A549	lung:	n/a	n/a
20	SP1	chr14:35761077-35761749	GM12878	blood:	n/a	chr14:35761499-35761508 chr14:35761495-35761509 chr14:35761499-35761509 chr14:35761499-35761509 chr14:35761498-35761510 chr14:35761500-35761509 chr14:35761498-35761510 chr14:35761500-35761509
21	ETS1	chr14:35761196-35761928	A549	lung:	n/a	chr14:35761601-35761611 chr14:35761603-35761612
22	NRF1	chr14:35761246-35761828	GM12878	blood:	n/a	chr14:35761446-35761457 chr14:35761443-35761457 chr14:35761445-35761456 chr14:35761446-35761460 chr14:35761499-35761508
23	MAFK	chr14:35761228-35762044	K562	blood:	n/a	n/a
24	CHD2	chr14:35761219-35761887	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr14:35760982-35762501	GM12878	blood:	n/a	n/a
26	MAFK	chr14:35761201-35761803	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr14:35761184-35761992	A549	lung:	n/a	n/a
28	ELF1	chr14:35761059-35762138	MCF-7	breast:	n/a	chr14:35761583-35761594 chr14:35761604-35761613 chr14:35761581-35761594 chr14:35761603-35761614
29	POLR2A	chr14:35760858-35762086	PFSK-1	brain:	n/a	n/a
30	MBD4	chr14:35760938-35762766	HepG2	liver:	n/a	n/a
31	MAX	chr14:35761126-35762095	MCF-7	breast:	n/a	n/a
32	POLR2A	chr14:35760866-35762449	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr14:35760868-35762665	GM12891	blood:	n/a	n/a
34	POLR2A	chr14:35761064-35762084	Raji	blood:	n/a	n/a
35	TCF7L2	chr14:35761111-35761902	Hela-S3	cervix:	n/a	chr14:35761457-35761471 chr14:35761462-35761469
36	MEF2C	chr14:35760962-35761715	GM12878	blood:	n/a	chr14:35761297-35761312 chr14:35761326-35761341
37	SP1	chr14:35761181-35761863	A549	lung:	n/a	chr14:35761499-35761508 chr14:35761495-35761509 chr14:35761499-35761509 chr14:35761499-35761509 chr14:35761498-35761510 chr14:35761500-35761509 chr14:35761498-35761510 chr14:35761500-35761509
38	NFIC	chr14:35760940-35762385	HepG2	liver:	n/a	chr14:35761067-35761084
39	GABPA	chr14:35761024-35762344	A549	lung:	n/a	chr14:35761446-35761457 chr14:35761443-35761457 chr14:35761446-35761460 chr14:35761499-35761508
40	POLR2A	chr14:35761054-35762103	GM18951	blood:	n/a	n/a
41	TBL1XR1	chr14:35761160-35761857	GM12878	blood:	n/a	n/a
42	POLR2A	chr14:35761168-35761933	HUVEC	blood vessel:	n/a	n/a
43	PML	chr14:35761055-35762166	GM12878	blood:	n/a	n/a
44	GTF2F1	chr14:35761184-35761877	K562	blood:	n/a	n/a
45	ZBTB33	chr14:35761238-35761660	A549	lung:	n/a	n/a
46	CEBPB	chr14:35761095-35761854	HepG2	liver:	n/a	n/a
47	TCF7L2	chr14:35761072-35761784	HepG2	liver:	n/a	chr14:35761457-35761471 chr14:35761462-35761469
48	POLR2A	chr14:35761162-35761886	K562	blood:	n/a	n/a
49	MXI1	chr14:35761099-35762224	HepG2	liver:	n/a	n/a
50	POLR2A	chr14:35761159-35761871	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:35757780..35767592-chr14:35866063..35878024,53	MCF-7	breast:
2	chr14:35701633..35705447-chr14:35760005..35763215,4	MCF-7	breast:
3	chr14:35761190..35763920-chr14:35872521..35874914,4	K562	blood:
4	chr14:35760513..35762912-chr14:35858124..35860393,3	K562	blood:
5	chr14:35760689..35762512-chr8:131454589..131456596,2	MCF-7	breast:
6	chr14:35757192..35766588-chr14:35865950..35877395,53	MCF-7	breast:

Variant related genes	Relation type
PSMA6	TF binding region
ENSG00000153317	Chromatin interaction
ENSG00000240023	Chromatin interaction
ENSG00000256243	Chromatin interaction
ENSG00000100906	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10134120	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs10137628	0.94[EUR][1000 genomes]
rs10138507	0.83[EUR][1000 genomes]
rs10141237	0.94[TSI][hapmap]
rs10438061	1.00[CEU][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.94[EUR][1000 genomes]
rs17103097	1.00[CEU][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.83[EUR][1000 genomes]
rs17103098	1.00[CEU][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs17103110	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs17456102	1.00[ASW][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];1.00[AFR][1000 genomes]
rs17457389	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17457568	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17458137	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17458214	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17458367	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17458562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17458715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17512725	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17513024	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17535082	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs17536892	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17537213	0.85[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17537248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17597246	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17597267	0.94[TSI][hapmap]
rs17597667	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17598437	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs17598701	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17598816	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2057336	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2057339	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs28446606	0.83[EUR][1000 genomes]
rs28472413	0.83[EUR][1000 genomes]
rs28510695	0.94[EUR][1000 genomes]
rs28549180	0.82[EUR][1000 genomes]
rs45573840	1.00[AFR][1000 genomes]
rs4982256	0.88[EUR][1000 genomes]
rs6571711	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7140912	1.00[CEU][hapmap]
rs7143518	1.00[AFR][1000 genomes]
rs7147426	1.00[CEU][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.83[EUR][1000 genomes]
rs7150752	1.00[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7151763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7154558	0.87[CEU][hapmap]
rs7156874	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7159008	1.00[CEU][hapmap]
rs8005196	0.87[CEU][hapmap]
rs8014945	1.00[AFR][1000 genomes]
rs8015909	0.90[EUR][1000 genomes]
rs8017330	0.88[TSI][hapmap]
rs8017676	0.94[TSI][hapmap]

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	nsv949617	chr14:35379923-35825436	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1053604	chr14:35548276-35825805	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1052392	chr14:35563220-35893309	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
5	nsv542036	chr14:35563220-35893309	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
6	nsv1038396	chr14:35714499-35788189	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1045288	chr14:35735886-35788189	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1043840	chr14:35739319-35791879	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv1794822	chr14:35755087-35761366	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17536948	FAM177A1	cis	cerebellum	SCAN
rs17536948	KIAA0391	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35759600-35763200	Active TSS	Fetal Kidney	kidney
2	chr14:35760400-35763400	Active TSS	Placenta	Placenta
3	chr14:35760600-35761400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr14:35760600-35762200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr14:35760600-35762200	Active TSS	Fetal Brain Female	brain
6	chr14:35760600-35762400	Active TSS	Duodenum Mucosa	Duodenum
7	chr14:35760600-35762400	Active TSS	Fetal Stomach	stomach
8	chr14:35760600-35762600	Active TSS	Small Intestine	intestine
9	chr14:35760600-35762800	Active TSS	Right Ventricle	heart
10	chr14:35760600-35763000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr14:35760600-35763000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:35760600-35763400	Active TSS	Fetal Intestine Small	intestine
13	chr14:35760600-35763600	Active TSS	Fetal Intestine Large	intestine
14	chr14:35760600-35763800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr14:35760600-35765200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:35760800-35761400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr14:35760800-35761400	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr14:35760800-35761400	Flanking Active TSS	Fetal Thymus	thymus
19	chr14:35760800-35761600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr14:35760800-35761800	Active TSS	Primary T cells from cord blood	blood
21	chr14:35760800-35761800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr14:35760800-35762000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr14:35760800-35762000	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr14:35760800-35762200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr14:35760800-35762200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr14:35760800-35762200	Active TSS	Brain Anterior Caudate	brain
27	chr14:35760800-35762200	Active TSS	Brain Cingulate Gyrus	brain
28	chr14:35760800-35762200	Active TSS	Brain Hippocampus Middle	brain
29	chr14:35760800-35762200	Active TSS	Brain Substantia Nigra	brain
30	chr14:35760800-35762200	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr14:35760800-35762200	Active TSS	Pancreas	Pancrea
32	chr14:35760800-35762200	Active TSS	Rectal Smooth Muscle	rectum
33	chr14:35760800-35762400	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr14:35760800-35762400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr14:35760800-35762400	Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr14:35760800-35762400	Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr14:35760800-35762400	Active TSS	Brain Angular Gyrus	brain
38	chr14:35760800-35762400	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr14:35760800-35762400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr14:35760800-35762400	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr14:35760800-35762400	Active TSS	Fetal Lung	lung
42	chr14:35760800-35762400	Active TSS	NH-A	brain
43	chr14:35760800-35762400	Active TSS	Osteobl	bone
44	chr14:35760800-35762600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr14:35760800-35762600	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr14:35760800-35762600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr14:35760800-35762600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr14:35760800-35762600	Active TSS	Colonic Mucosa	Colon
49	chr14:35760800-35762600	Active TSS	Esophagus	oesophagus
50	chr14:35760800-35762600	Active TSS	HUVEC	blood vessel

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