Variant report

Variant	rs17100852
Chromosome Location	chr14:63670928-63670929
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	chr14:63670800-63670950	HRE	kidney:	n/a	chr14:63670887-63670895
2	SIN3A	chr14:63670793-63671129	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr14:63670900-63671050	HMF	breast:	n/a	n/a
4	POLR2A	chr14:63670727-63671298	HUVEC	blood vessel:	n/a	n/a
5	GABPA	chr14:63670824-63671019	HepG2	liver:	n/a	n/a
6	RCOR1	chr14:63670887-63671057	HepG2	liver:	n/a	n/a
7	CTCF	chr14:63670920-63671070	HPF	lung:	n/a	n/a
8	FOXP2	chr14:63670733-63671126	SK-N-MC	brain:	n/a	n/a
9	BACH1	chr14:63670866-63671102	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr14:63670805-63671101	SK-N-SH	brain:	n/a	n/a
11	CTCF	chr14:63670864-63671058	ProgFib	skin:	n/a	chr14:63670887-63670895
12	CTCF	chr14:63670900-63671050	RPTEC	kidney:	n/a	n/a
13	CTCF	chr14:63670876-63671078	Fibrobl	skin:	n/a	chr14:63670887-63670895
14	FOS	chr14:63670329-63671365	HUVEC	blood vessel:	n/a	chr14:63670772-63670782 chr14:63670772-63670782 chr14:63671342-63671354 chr14:63670788-63670797 chr14:63670772-63670782 chr14:63670773-63670781 chr14:63670772-63670782
15	POLR2A	chr14:63670664-63671910	SK-N-MC	brain:	n/a	n/a
16	CTCF	chr14:63670913-63671072	Gliobla	brain:	n/a	n/a
17	POLR2A	chr14:63670354-63671843	IMR90	lung:	n/a	n/a
18	CTCF	chr14:63670820-63670970	BE2_C	brain:	n/a	chr14:63670887-63670895
19	SPI1	chr14:63670712-63671210	HL-60	blood:	n/a	chr14:63670947-63670956 chr14:63670944-63670957
20	CTCF	chr14:63670880-63671030	SAEC	small airway:	n/a	chr14:63670887-63670895
21	CTCF	chr14:63670920-63671070	HBMEC	blood vessel:	n/a	n/a
22	CTCF	chr14:63670920-63671070	HA-sp	spinal cord:	n/a	n/a
23	POLR2A	chr14:63670742-63671195	H1-neurons	neurons:	n/a	n/a
24	CTCF	chr14:63670860-63671010	SK-N-SH_RA	brain:	n/a	chr14:63670887-63670895
25	POLR2A	chr14:63670622-63671289	SK-N-SH	brain:	n/a	n/a
26	CTCF	chr14:63670880-63671030	HPF	lung:	n/a	chr14:63670887-63670895
27	E2F4	chr14:63670790-63670965	MCF10A-Er-Src	breast:	n/a	n/a
28	NFIC	chr14:63670578-63671395	SK-N-SH	brain:	n/a	n/a
29	MAX	chr14:63670614-63671154	SK-N-SH	brain:	n/a	n/a
30	ELF1	chr14:63670655-63671220	SK-N-SH	brain:	n/a	chr14:63670945-63670956
31	CTCF	chr14:63670880-63671030	HMEC	breast:	n/a	chr14:63670887-63670895
32	RAD21	chr14:63670723-63671127	SK-N-SH_RA	brain:	n/a	n/a
33	MAX	chr14:63670668-63671273	SK-N-SH	brain:	n/a	n/a
34	CTCF	chr14:63670820-63670970	WERI-Rb-1	eye:	n/a	chr14:63670887-63670895
35	MAFF	chr14:63670875-63671195	HepG2	liver:	n/a	n/a
36	CTCF	chr14:63670840-63670990	Caco-2	colon:	n/a	chr14:63670887-63670895
37	TCF12	chr14:63670427-63671364	SK-N-SH	brain:	n/a	n/a
38	CTCF	chr14:63670860-63671010	HFF	foreskin:	n/a	chr14:63670887-63670895
39	POLR2A	chr14:63670591-63671798	HUVEC	blood vessel:	n/a	n/a
40	CTCF	chr14:63670880-63671030	HMF	breast:	n/a	chr14:63670887-63670895
41	TAF1	chr14:63670715-63671184	SK-N-SH	brain:	n/a	n/a
42	TBP	chr14:63670826-63671175	HepG2	liver:	n/a	n/a
43	CTCF	chr14:63670880-63671030	NHLF	lung:	n/a	chr14:63670887-63670895
44	CTCF	chr14:63670924-63671004	MCF-7	breast:	n/a	n/a
45	FOS	chr14:63670597-63671149	MCF10A-Er-Src	breast:	n/a	chr14:63670772-63670782 chr14:63670772-63670782 chr14:63670788-63670797 chr14:63670772-63670782 chr14:63670773-63670781 chr14:63670772-63670782
46	CTCF	chr14:63670820-63671050	WI-38	lung:	n/a	chr14:63670887-63670895
47	ELF1	chr14:63670704-63671246	MCF-7	breast:	n/a	chr14:63670945-63670956
48	CTCF	chr14:63670900-63671050	HPAF	blood vessel:	n/a	n/a
49	POLR2A	chr14:63670340-63673661	HUVEC	blood vessel:	n/a	n/a
50	GATA2	chr14:63670665-63673047	HUVEC	blood vessel:	n/a	chr14:63672690-63672704 chr14:63670893-63670900

Variant related genes	Relation type
RHOJ	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11846160	0.87[EUR][1000 genomes]
rs12232155	1.00[CEU][hapmap];1.00[MEX][hapmap];0.87[EUR][1000 genomes]
rs1467424	1.00[ASN][1000 genomes]
rs17100833	1.00[CEU][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs1955677	0.87[EUR][1000 genomes]
rs1957784	0.87[EUR][1000 genomes]
rs28416653	0.87[EUR][1000 genomes]
rs73266434	0.87[EUR][1000 genomes]
rs74058858	0.87[EUR][1000 genomes]
rs74058885	0.87[EUR][1000 genomes]
rs74058889	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs74058898	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs74058900	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74061618	0.87[EUR][1000 genomes]
rs8009581	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv564893	chr14:63526931-63796122	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1045599	chr14:63540073-63765152	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv902017	chr14:63604188-63674832	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63668000-63671000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:63668800-63671200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:63670200-63671000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr14:63670200-63671000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:63670200-63671400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr14:63670200-63671400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:63670200-63671400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
8	chr14:63670200-63671400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr14:63670200-63671400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr14:63670200-63671400	Active TSS	NHLF	lung
11	chr14:63670200-63673400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr14:63670200-63673400	Active TSS	Aorta	Aorta
13	chr14:63670200-63673400	Active TSS	Ovary	ovary
14	chr14:63670400-63671000	Enhancers	HSMM	muscle
15	chr14:63670400-63671200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:63670400-63671200	Active TSS	Brain Anterior Caudate	brain
17	chr14:63670400-63671200	Enhancers	Placenta Amnion	Placenta Amnion
18	chr14:63670400-63671200	Flanking Active TSS	NHEK	skin
19	chr14:63670400-63671400	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr14:63670400-63671600	Flanking Active TSS	Fetal Heart	heart
21	chr14:63670400-63671800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:63670400-63671800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr14:63670400-63672000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:63670400-63672800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr14:63670400-63673000	Active TSS	Brain Angular Gyrus	brain
26	chr14:63670400-63673600	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr14:63670400-63674600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr14:63670400-63674600	Active TSS	Psoas Muscle	Psoas
29	chr14:63670400-63674600	Active TSS	Right Atrium	heart
30	chr14:63670400-63674600	Active TSS	Stomach Smooth Muscle	stomach
31	chr14:63670600-63671000	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr14:63670600-63671000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
33	chr14:63670600-63671000	Active TSS	Osteobl	bone
34	chr14:63670600-63671200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr14:63670600-63671200	Active TSS	Fetal Brain Female	brain
36	chr14:63670600-63671200	Bivalent/Poised TSS	A549	lung
37	chr14:63670600-63671400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr14:63670600-63671400	Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr14:63670600-63671600	Active TSS	Fetal Muscle Leg	muscle
40	chr14:63670600-63671600	Active TSS	NHDF-Ad	bronchial
41	chr14:63670600-63672000	Active TSS	Brain Substantia Nigra	brain
42	chr14:63670600-63672000	Flanking Active TSS	HMEC	breast
43	chr14:63670600-63672800	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr14:63670600-63673000	Active TSS	Fetal Kidney	kidney
45	chr14:63670600-63673200	Active TSS	Fetal Lung	lung
46	chr14:63670600-63673400	Active TSS	Rectal Smooth Muscle	rectum
47	chr14:63670600-63673400	Active TSS	NH-A	brain
48	chr14:63670600-63674000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr14:63670600-63674000	Active TSS	Fetal Stomach	stomach
50	chr14:63670600-63674600	Active TSS	Duodenum Smooth Muscle	Duodenum

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