Variant report

Variant	rs17104897
Chromosome Location	chr14:37133206-37133207
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SUZ12	chr14:37131119-37134255	NT2-D1	testis:	n/a	n/a
2	ZNF263	chr14:37130816-37133564	HEK293-T-REx	kidney:	n/a	chr14:37131161-37131170
3	SUZ12	chr14:37131084-37133709	H1-hESC	embryonic stem cell:	n/a	n/a
4	EGR1	chr14:37132534-37133312	H1-hESC	embryonic stem cell:	n/a	chr14:37132766-37132779 chr14:37133002-37133015 chr14:37132761-37132783 chr14:37132766-37132779 chr14:37132766-37132779
5	POLR2A	chr14:37132985-37133299	MCF10A-Er-Src	breast:	n/a	n/a
6	CTBP2	chr14:37129970-37133601	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr14:37133100-37133250	AG04449	skin:	n/a	n/a
8	MAX	chr14:37132042-37133212	H1-hESC	embryonic stem cell:	n/a	n/a
9	HMGN3	chr14:37132937-37133265	K562	blood:	n/a	n/a
10	POLR2A	chr14:37133019-37133505	H1-neurons	neurons:	n/a	n/a
11	ZNF143	chr14:37132904-37133252	H1-hESC	embryonic stem cell:	n/a	chr14:37132993-37133012 chr14:37133062-37133072

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:37133168-37133218	AG09319	gingival:	n/a
2	chr14:37133168-37133218	PFSK-1	brain:	n/a
3	chr14:37133168-37133218	IMR90	lung:	fetal
4	chr14:37133168-37133218	GM19239	blood:	n/a
5	chr14:37133168-37133218	ECC-1	luminal epithelium:	n/a
6	chr14:37133168-37133218	HCF	heart:	n/a
7	chr14:37133168-37133218	T-47D	breast:	n/a
8	chr14:37133168-37133218	BE2_C	brain:	n/a
9	chr14:37133168-37133218	HCPEpiC	choroid plexus:	n/a
10	chr14:37133168-37133218	Caco-2	colon:	n/a
11	chr14:37133168-37133218	HRE	kidney:	n/a
12	chr14:37133168-37133218	K562	blood:	n/a
13	chr14:37133168-37133218	HRCEpiC	kidney:	n/a
14	chr14:37133168-37133218	ovcar-3	ovarian:	n/a
15	chr14:37133168-37133218	NHDF-neo	bronchial:	n/a
16	chr14:37133168-37133218	HepG2	liver:	n/a
17	chr14:37133168-37133218	Hela-S3	cervix:	n/a
18	chr14:37133168-37133218	AG04449	skin:	fetal
19	chr14:37133168-37133218	SK-N-MC	brain:	n/a
20	chr14:37133168-37133218	U87	brain:	n/a
21	chr14:37133168-37133218	GM06990	blood:	n/a
22	chr14:37133168-37133218	HMEC	breast:	n/a
23	chr14:37133168-37133218	Jurkat	blood:	n/a
24	chr14:37133168-37133218	HNPCEpiC	eye:	n/a
25	chr14:37133168-37133218	BJ	skin:	n/a
26	chr14:37133168-37133218	H1-hESC	embryonic stem cell:	embryo
27	chr14:37133168-37133218	SAEC	small airway:	n/a
28	chr14:37133168-37133218	SKMC	muscle:	n/a
29	chr14:37133168-37133218	AG10803	skin:	n/a
30	chr14:37133168-37133218	SK-N-SH_RA	brain:	n/a
31	chr14:37133168-37133218	HEK293	kidney:	embryo
32	chr14:37133168-37133218	HEEpiC	esophagus:	n/a
33	chr14:37133168-37133218	Hepatocyte	liver:	n/a
34	chr14:37133168-37133218	AoSMC	blood vessel:	n/a
35	chr14:37133168-37133218	CMK	blood:	n/a
36	chr14:37133168-37133218	MCF-7	breast:	n/a
37	chr14:37133168-37133218	MCF10A-Er-Src	breast:	n/a
38	chr14:37133168-37133218	AG04450	lung:	fetal
39	chr14:37133168-37133218	ProgFib	skin:	n/a
40	chr14:37133168-37133218	HRPEpiC	eye:	n/a
41	chr14:37133168-37133218	RPTEC	kidney:	n/a
42	chr14:37133168-37133218	GM12891	blood:	n/a
43	chr14:37133168-37133218	NH-A	brain:	n/a
44	chr14:37133168-37133218	AG09309	skin:	n/a
45	chr14:37133168-37133218	NT2-D1	testis:	n/a
46	chr14:37133168-37133218	HL-60	blood:	n/a
47	chr14:37133168-37133218	LNCaP	prostate:	n/a
48	chr14:37133168-37133218	PANC-1	pancreas:	n/a
49	chr14:37133168-37133218	PrEC	prostate:	n/a
50	chr14:37133168-37133218	HCT-116	colon:	n/a

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:37131975..37134895-chr14:37181236..37183653,2	MCF-7	breast:

No data

Variant related genes	Relation type
PAX9	TF binding region
PAX9	CpG island

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs17104874	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17104895	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17104914	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17104923	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1983667	0.92[EUR][1000 genomes]
rs1983668	0.92[EUR][1000 genomes]
rs2207533	0.92[EUR][1000 genomes]
rs57054117	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59964817	0.85[EUR][1000 genomes]
rs7143727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7148541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7154983	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7158515	0.85[EUR][1000 genomes]
rs73253986	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73253992	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73253995	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73258616	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73260198	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73260505	1.00[EUR][1000 genomes]
rs73262314	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73262323	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8003719	0.92[EUR][1000 genomes]
rs8009345	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]

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	nsv1040256	chr14:36501452-37172046	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv542040	chr14:36501452-37172046	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv1047290	chr14:36564568-37445157	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv1037952	chr14:36670484-37294692	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv542042	chr14:36670484-37294692	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv1053685	chr14:36915643-37245920	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv917279	chr14:36953511-37146655	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv819585	chr14:37130627-37138654	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv498084	chr14:37131404-37141112	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37130000-37133800	Bivalent Enhancer	Liver	Liver
2	chr14:37130400-37133400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
3	chr14:37130400-37133400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
4	chr14:37130400-37133600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr14:37130400-37133600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:37130600-37133400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
7	chr14:37130600-37133600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr14:37130600-37133600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr14:37130600-37133600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
10	chr14:37130600-37133600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
11	chr14:37130600-37133800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
12	chr14:37130800-37133400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
13	chr14:37131000-37133400	Bivalent/Poised TSS	HSMM	muscle
14	chr14:37131000-37135600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
15	chr14:37131000-37137200	Bivalent/Poised TSS	Thymus	Thymus
16	chr14:37131200-37133400	Bivalent Enhancer	Fetal Intestine Large	intestine
17	chr14:37131200-37133600	Bivalent Enhancer	Fetal Lung	lung
18	chr14:37131200-37134000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
19	chr14:37131400-37133400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr14:37131400-37133400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
21	chr14:37131400-37133400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
22	chr14:37131400-37133400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr14:37131400-37133600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
24	chr14:37131400-37133800	Transcr. at gene 5' and 3'	Esophagus	oesophagus
25	chr14:37131600-37133400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr14:37131600-37133400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
27	chr14:37131600-37133400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr14:37131600-37133600	Bivalent Enhancer	Fetal Intestine Small	intestine
29	chr14:37131600-37133600	Enhancers	Pancreas	Pancrea
30	chr14:37131600-37136600	Bivalent/Poised TSS	Fetal Thymus	thymus
31	chr14:37131800-37133600	Bivalent Enhancer	Fetal Stomach	stomach
32	chr14:37132000-37133600	Bivalent Enhancer	Stomach Mucosa	stomach
33	chr14:37132200-37133400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
34	chr14:37132200-37133400	Active TSS	Aorta	Aorta
35	chr14:37132200-37155200	Weak transcription	K562	blood
36	chr14:37132400-37133400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
37	chr14:37132400-37133400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr14:37132400-37133400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr14:37132400-37133400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
40	chr14:37132400-37133400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
41	chr14:37132400-37133600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
42	chr14:37132400-37133600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
43	chr14:37132400-37133600	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
44	chr14:37132400-37133800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
45	chr14:37132600-37133400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:37132600-37133600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr14:37132800-37133400	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr14:37132800-37133400	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
49	chr14:37132800-37133400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
50	chr14:37132800-37133400	Bivalent/Poised TSS	Psoas Muscle	Psoas

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