Variant report

Variant	rs17104512
Chromosome Location	chr14:68086405-68086406
allele	C/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	CTCF	chr14:68086306-68086820	K562	blood:	n/a	chr14:68086615-68086628
2	SIN3AK20	chr14:68086001-68087023	HCT-116	colon:	n/a	n/a
3	ELF1	chr14:68086193-68086662	K562	blood:	n/a	chr14:68086499-68086511 chr14:68086615-68086627
4	JUND	chr14:68086256-68086779	A549	lung:	n/a	chr14:68086572-68086581 chr14:68086464-68086473
5	POLR2A	chr14:68086187-68086525	H1-hESC	embryonic stem cell:	n/a	n/a
6	ZKSCAN1	chr14:68086226-68086783	Hela-S3	cervix:	n/a	n/a
7	ATF2	chr14:68085975-68086811	H1-hESC	embryonic stem cell:	n/a	chr14:68086571-68086582
8	FOS	chr14:68086364-68086617	MCF10A-Er-Src	breast:	n/a	chr14:68086572-68086581 chr14:68086464-68086473
9	POLR2A	chr14:68086264-68086711	GM12878	blood:	n/a	n/a
10	TEAD4	chr14:68086020-68086911	ECC-1	luminal epithelium:	n/a	n/a
11	RUNX3	chr14:68086210-68086590	GM12878	blood:	n/a	n/a
12	POLR2A	chr14:68086230-68086764	GM12878	blood:	n/a	n/a
13	TBL1XR1	chr14:68086318-68086679	K562	blood:	n/a	n/a
14	USF2	chr14:68086309-68086446	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr14:68086141-68086893	A549	lung:	n/a	chr14:68086577-68086586 chr14:68086502-68086512
16	POLR2A	chr14:68086211-68086868	IMR90	lung:	n/a	n/a
17	POLR2A	chr14:68086306-68086904	HUVEC	blood vessel:	n/a	n/a
18	SMC3	chr14:68086208-68086857	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr14:68085649-68086979	PBDE	blood:	n/a	n/a
20	MAX	chr14:68086180-68086648	K562	blood:	n/a	chr14:68086577-68086586 chr14:68086502-68086512
21	PAX5	chr14:68086125-68086588	GM12878	blood:	n/a	chr14:68086269-68086287
22	MAX	chr14:68086302-68086667	GM12878	blood:	n/a	chr14:68086577-68086586 chr14:68086502-68086512
23	NFYB	chr14:68086016-68086712	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr14:68086098-68086571	GM12892	blood:	n/a	n/a
25	POLR2A	chr14:68086210-68086527	GM12878	blood:	n/a	n/a
26	ELF1	chr14:68086101-68087029	MCF-7	breast:	n/a	chr14:68086499-68086511 chr14:68086615-68086627
27	HMGN3	chr14:68086156-68086825	K562	blood:	n/a	n/a
28	JUND	chr14:68086233-68086659	H1-hESC	embryonic stem cell:	n/a	chr14:68086572-68086581 chr14:68086464-68086473
29	POLR2A	chr14:68086125-68086429	ECC-1	luminal epithelium:	n/a	n/a
30	MYC	chr14:68086289-68086663	MCF-7	breast:	n/a	chr14:68086577-68086586 chr14:68086502-68086512
31	JUND	chr14:68086162-68086766	HepG2	liver:	n/a	chr14:68086572-68086581 chr14:68086464-68086473
32	YY1	chr14:68086263-68086758	HCT-116	colon:	n/a	chr14:68086499-68086513 chr14:68086618-68086632 chr14:68086548-68086562 chr14:68086551-68086560
33	HA-E2F1	chr14:68086226-68086891	Hela-S3	cervix:	n/a	chr14:68086571-68086580 chr14:68086529-68086539 chr14:68086506-68086516 chr14:68086463-68086472 chr14:68086573-68086582 chr14:68086465-68086474 chr14:68086542-68086551 chr14:68086551-68086560
34	CTCF	chr14:68086320-68086811	GM12878	blood:	n/a	chr14:68086615-68086628
35	CEBPB	chr14:68086327-68086653	K562	blood:	n/a	n/a
36	HA-E2F1	chr14:68086111-68087518	MCF-7	breast:	n/a	chr14:68086571-68086580 chr14:68086529-68086539 chr14:68086506-68086516 chr14:68086463-68086472 chr14:68086573-68086582 chr14:68086465-68086474 chr14:68086542-68086551 chr14:68086551-68086560
37	POLR2A	chr14:68086243-68086936	HepG2	liver:	n/a	n/a
38	POLR2A	chr14:68086079-68087744	H1-neurons	neurons:	n/a	n/a
39	MAX	chr14:68085990-68086960	HCT-116	colon:	n/a	chr14:68086577-68086586 chr14:68086502-68086512
40	RAD21	chr14:68086294-68086843	H1-hESC	embryonic stem cell:	n/a	chr14:68086618-68086632
41	MAFK	chr14:68086209-68086784	Hela-S3	cervix:	n/a	chr14:68086259-68086273
42	FOS	chr14:68086310-68086732	MCF10A-Er-Src	breast:	n/a	chr14:68086572-68086581 chr14:68086464-68086473
43	POLR2A	chr14:68086181-68086931	Hela-S3	cervix:	n/a	n/a
44	JUN	chr14:68086149-68086655	H1-hESC	embryonic stem cell:	n/a	chr14:68086460-68086473 chr14:68086572-68086581 chr14:68086464-68086473
45	FOSL2	chr14:68086136-68086807	HepG2	liver:	n/a	chr14:68086572-68086581 chr14:68086464-68086473
46	POLR2A	chr14:68086377-68086918	U87	brain:	n/a	n/a
47	TBP	chr14:68086173-68086843	HepG2	liver:	n/a	n/a
48	RFX5	chr14:68086295-68086791	GM12878	blood:	n/a	n/a
49	CTBP2	chr14:68086074-68086772	H1-hESC	embryonic stem cell:	n/a	n/a
50	ELF1	chr14:68086168-68086694	GM12878	blood:	n/a	chr14:68086499-68086511 chr14:68086615-68086627

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:68086375-68086425	LNCaP	prostate:	n/a
2	chr14:68086375-68086425	ovcar-3	ovarian:	n/a
3	chr14:68086375-68086425	MCF10A-Er-Src	breast:	n/a
4	chr14:68086375-68086425	HCPEpiC	choroid plexus:	n/a
5	chr14:68086375-68086425	SK-N-MC	brain:	n/a
6	chr14:68086375-68086425	HIPEpiC	eye:	n/a
7	chr14:68086375-68086425	Caco-2	colon:	n/a
8	chr14:68086375-68086425	HAEpiC	amniotic membrane:	n/a
9	chr14:68086375-68086425	RPTEC	kidney:	n/a
10	chr14:68086375-68086425	HL-60	blood:	n/a
11	chr14:68086375-68086425	NHDF-neo	bronchial:	n/a
12	chr14:68086375-68086425	MCF-7	breast:	n/a
13	chr14:68086375-68086425	Jurkat	blood:	n/a
14	chr14:68086375-68086425	SAEC	small airway:	n/a
15	chr14:68086375-68086425	NH-A	brain:	n/a
16	chr14:68086375-68086425	HRCEpiC	kidney:	n/a
17	chr14:68086375-68086425	SKMC	muscle:	n/a
18	chr14:68086375-68086425	BJ	skin:	n/a
19	chr14:68086375-68086425	HEK293	kidney:	embryo
20	chr14:68086375-68086425	HCF	heart:	n/a
21	chr14:68086375-68086425	HRPEpiC	eye:	n/a
22	chr14:68086375-68086425	PFSK-1	brain:	n/a
23	chr14:68086375-68086425	GM19239	blood:	n/a
24	chr14:68086375-68086425	PrEC	prostate:	n/a
25	chr14:68086375-68086425	H1-hESC	embryonic stem cell:	embryo
26	chr14:68086375-68086425	NHBE	bronchial:	n/a
27	chr14:68086375-68086425	Hepatocyte	liver:	n/a
28	chr14:68086375-68086425	HEEpiC	esophagus:	n/a
29	chr14:68086375-68086425	HRE	kidney:	n/a
30	chr14:68086375-68086425	GM12892	blood:	n/a
31	chr14:68086375-68086425	NB4	blood:	n/a
32	chr14:68086375-68086425	A549	lung:	n/a
33	chr14:68086375-68086425	AG09319	gingival:	n/a
34	chr14:68086375-68086425	GM12878	blood:	n/a
35	chr14:68086375-68086425	SK-N-SH	brain:	n/a
36	chr14:68086375-68086425	AG04450	lung:	fetal
37	chr14:68086375-68086425	T-47D	breast:	n/a
38	chr14:68086375-68086425	AG04449	skin:	fetal
39	chr14:68086375-68086425	NT2-D1	testis:	n/a
40	chr14:68086375-68086425	ECC-1	luminal epithelium:	n/a
41	chr14:68086375-68086425	HCT-116	colon:	n/a
42	chr14:68086375-68086425	CMK	blood:	n/a
43	chr14:68086375-68086425	HNPCEpiC	eye:	n/a
44	chr14:68086375-68086425	Hela-S3	cervix:	n/a
45	chr14:68086375-68086425	HepG2	liver:	n/a
46	chr14:68086375-68086425	ProgFib	skin:	n/a
47	chr14:68086375-68086425	PANC-1	pancreas:	n/a
48	chr14:68086375-68086425	U87	brain:	n/a
49	chr14:68086375-68086425	K562	blood:	n/a
50	chr14:68086375-68086425	AG09309	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:68080492..68083154-chr14:68084314..68086467,2	K562	blood:
2	chr14:68085513..68087982-chr14:68140363..68143281,3	MCF-7	breast:
3	chr14:68083940..68087212-chr14:68160289..68163699,4	K562	blood:
4	chr14:68084933..68087068-chr14:68140888..68143794,2	K562	blood:
5	chr14:68081217..68082953-chr14:68085060..68086622,2	K562	blood:
6	chr14:68083940..68088003-chr14:68160289..68162917,5	K562	blood:
7	chr14:68084183..68087028-chr14:68160218..68163936,5	MCF-7	breast:
8	chr11:62623093..62623824-chr14:68086209..68087080,2	Hela-S3	cervix:
9	chr14:68084877..68086420-chr14:68124649..68127508,2	MCF-7	breast:
10	chr14:68085007..68087641-chr14:68161734..68163830,3	MCF-7	breast:

Variant related genes	Relation type
ARG2	TF binding region
ENSG00000201529	TF binding region
ARG2	CpG island
ENSG00000201529	CpG island
ENSG00000100568	Chromatin interaction
ENSG00000259648	Chromatin interaction
ENSG00000072042	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000255717	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10131481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10131493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10131731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10131878	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10131884	1.00[ASW][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10131990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10133414	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10134090	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10134923	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10135791	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10135802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10136402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10136482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10137882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10139933	1.00[AMR][1000 genomes]
rs10140733	1.00[ASW][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10141534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10144907	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10145465	0.96[AFR][1000 genomes]
rs10146550	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10146702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10148991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10150006	1.00[AFR][1000 genomes]
rs10150340	1.00[AFR][1000 genomes]
rs11846441	0.86[ASW][hapmap]
rs17104480	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17104482	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17104486	0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17104488	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17104495	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17104501	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2320030	0.86[ASW][hapmap]
rs28368810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28449642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28457193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28547499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28549243	1.00[AMR][1000 genomes]
rs28575699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4899215	0.86[YRI][hapmap];0.90[AFR][1000 genomes]
rs8017597	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv902068	chr14:68083133-68204876	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription 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	36 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68085600-68087200	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr14:68085600-68087400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr14:68085600-68087600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr14:68085800-68086600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr14:68085800-68087400	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr14:68085800-68087400	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr14:68085800-68087400	Active TSS	NH-A	brain
8	chr14:68085800-68087800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr14:68086000-68086600	Active TSS	Colonic Mucosa	Colon
10	chr14:68086000-68086600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
11	chr14:68086000-68086600	Flanking Active TSS	HMEC	breast
12	chr14:68086000-68086800	Bivalent/Poised TSS	Fetal Stomach	stomach
13	chr14:68086000-68086800	Active TSS	Rectal Mucosa Donor 31	rectum
14	chr14:68086000-68087000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr14:68086000-68087200	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr14:68086000-68087200	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr14:68086000-68087200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:68086000-68087200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr14:68086000-68087200	Active TSS	Aorta	Aorta
20	chr14:68086000-68087200	Active TSS	Brain Anterior Caudate	brain
21	chr14:68086000-68087200	Active TSS	Brain Germinal Matrix	brain
22	chr14:68086000-68087200	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr14:68086000-68087200	Active TSS	Esophagus	oesophagus
24	chr14:68086000-68087200	Active TSS	Fetal Brain Female	brain
25	chr14:68086000-68087200	Active TSS	Pancreas	Pancrea
26	chr14:68086000-68087200	Active TSS	Right Ventricle	heart
27	chr14:68086000-68087400	Active TSS	H1 Cell Line	embryonic stem cell
28	chr14:68086000-68087400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr14:68086000-68087400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr14:68086000-68087400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
31	chr14:68086000-68087400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr14:68086000-68087400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr14:68086000-68087400	Active TSS	Brain Substantia Nigra	brain
34	chr14:68086000-68087400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
35	chr14:68086000-68087400	Flanking Active TSS	Placenta	Placenta
36	chr14:68086000-68087400	Active TSS	Left Ventricle	heart
37	chr14:68086000-68087400	Active TSS	Ovary	ovary
38	chr14:68086000-68087400	Active TSS	Right Atrium	heart
39	chr14:68086000-68087600	Active TSS	H9 Cell Line	embryonic stem cell
40	chr14:68086000-68087600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr14:68086000-68087600	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr14:68086000-68087600	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr14:68086000-68087600	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr14:68086000-68087800	Active TSS	Brain Hippocampus Middle	brain
45	chr14:68086000-68088000	Active TSS	Psoas Muscle	Psoas
46	chr14:68086000-68088000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr14:68086200-68086600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr14:68086200-68086600	Active TSS	Liver	Liver
49	chr14:68086200-68086800	Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr14:68086200-68086800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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