Variant report

Variant	rs2124203
Chromosome Location	chr15:59179264-59179265
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:59179078-59179266	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr15:59179114-59179457	HepG2	liver:	n/a	n/a
3	POLR2A	chr15:59179050-59179750	HepG2	liver:	n/a	n/a
4	POLR2A	chr15:59178766-59179705	HepG2	liver:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:59179239-59179289	NHDF-neo	bronchial:	n/a
2	chr15:59179239-59179289	RPTEC	kidney:	n/a
3	chr15:59179234-59179284	SKMC	muscle:	n/a
4	chr15:59179234-59179284	ECC-1	luminal epithelium:	n/a
5	chr15:59179239-59179289	AG10803	skin:	n/a
6	chr15:59179239-59179289	SAEC	small airway:	n/a
7	chr15:59179239-59179289	GM19239	blood:	n/a
8	chr15:59179234-59179284	LNCaP	prostate:	n/a
9	chr15:59179234-59179284	GM06990	blood:	n/a
10	chr15:59179234-59179284	GM12878	blood:	n/a
11	chr15:59179234-59179284	HRPEpiC	eye:	n/a
12	chr15:59179234-59179284	Caco-2	colon:	n/a
13	chr15:59179239-59179289	HCT-116	colon:	n/a
14	chr15:59179239-59179289	AG04449	skin:	fetal
15	chr15:59179234-59179284	Hela-S3	cervix:	n/a
16	chr15:59179239-59179289	HRCEpiC	kidney:	n/a
17	chr15:59179234-59179284	AoSMC	blood vessel:	n/a
18	chr15:59179234-59179284	ovcar-3	ovarian:	n/a
19	chr15:59179234-59179284	HepG2	liver:	n/a
20	chr15:59179239-59179289	GM06990	blood:	n/a
21	chr15:59179239-59179289	NH-A	brain:	n/a
22	chr15:59179239-59179289	ovcar-3	ovarian:	n/a
23	chr15:59179234-59179284	HAEpiC	amniotic membrane:	n/a
24	chr15:59179234-59179284	HEEpiC	esophagus:	n/a
25	chr15:59179234-59179284	AG04450	lung:	fetal
26	chr15:59179239-59179289	MCF10A-Er-Src	breast:	n/a
27	chr15:59179239-59179289	BE2_C	brain:	n/a
28	chr15:59179234-59179284	PrEC	prostate:	n/a
29	chr15:59179234-59179284	HRE	kidney:	n/a
30	chr15:59179239-59179289	HCPEpiC	choroid plexus:	n/a
31	chr15:59179234-59179284	HCPEpiC	choroid plexus:	n/a
32	chr15:59179239-59179289	GM12892	blood:	n/a
33	chr15:59179234-59179284	HUVEC	blood vessel:	n/a
34	chr15:59179239-59179289	HCM	heart:	n/a
35	chr15:59179239-59179289	HPAEpiC	pulmonary alveolar:	n/a
36	chr15:59179239-59179289	LNCaP	prostate:	n/a
37	chr15:59179239-59179289	HEEpiC	esophagus:	n/a
38	chr15:59179239-59179289	PrEC	prostate:	n/a
39	chr15:59179234-59179284	AG09319	gingival:	n/a
40	chr15:59179234-59179284	SK-N-SH	brain:	n/a
41	chr15:59179239-59179289	HCF	heart:	n/a
42	chr15:59179234-59179284	NH-A	brain:	n/a
43	chr15:59179234-59179284	T-47D	breast:	n/a
44	chr15:59179239-59179289	HMEC	breast:	n/a
45	chr15:59179239-59179289	CMK	blood:	n/a
46	chr15:59179239-59179289	Jurkat	blood:	n/a
47	chr15:59179234-59179284	HL-60	blood:	n/a
48	chr15:59179239-59179289	HRPEpiC	eye:	n/a
49	chr15:59179234-59179284	HCT-116	colon:	n/a
50	chr15:59179239-59179289	HL-60	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:59061712..59064488-chr15:59178344..59181230,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000225798	TF binding region
SLTM	TF binding region
SLTM	CpG island
ENSG00000225798	CpG island
ENSG00000245975	Chromatin interaction
ENSG00000128923	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11856771	0.80[EUR][1000 genomes]
rs11857223	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16940919	1.00[CEU][hapmap]
rs16953404	1.00[CEU][hapmap]
rs6494045	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7183404	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]

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	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv1826703	chr15:59005922-59213678	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv1798487	chr15:59027139-59213678	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
5	nsv1035640	chr15:59105360-59190930	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv904270	chr15:59140329-59238415	Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	esv1850946	chr15:59174539-59429160	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59166800-59179400	Weak transcription	Fetal Heart	heart
2	chr15:59167000-59193200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr15:59167800-59187600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr15:59167800-59194000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr15:59168000-59182000	Strong transcription	Thymus	Thymus
6	chr15:59168000-59188800	Strong transcription	Fetal Muscle Leg	muscle
7	chr15:59168200-59189000	Strong transcription	Fetal Muscle Trunk	muscle
8	chr15:59168200-59202200	Strong transcription	Fetal Thymus	thymus
9	chr15:59168400-59181800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr15:59168400-59182600	Strong transcription	NHLF	lung
11	chr15:59168400-59188400	Strong transcription	Stomach Smooth Muscle	stomach
12	chr15:59168400-59188800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr15:59168400-59193200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr15:59168400-59193200	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr15:59168400-59206600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr15:59168400-59209600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr15:59168600-59188600	Strong transcription	Skeletal Muscle Male	skeletal muscle
18	chr15:59168600-59189400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr15:59168600-59193000	Strong transcription	A549	lung
20	chr15:59168600-59195800	Strong transcription	Dnd41	blood
21	chr15:59168600-59202400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr15:59168600-59209800	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr15:59168600-59220000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr15:59168800-59180400	Weak transcription	Stomach Mucosa	stomach
25	chr15:59168800-59190200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr15:59168800-59193200	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr15:59168800-59193200	Strong transcription	Adipose Nuclei	Adipose
28	chr15:59169000-59179800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr15:59169000-59190400	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr15:59169000-59193000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr15:59169000-59193200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr15:59169000-59193400	Strong transcription	K562	blood
33	chr15:59169000-59209800	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr15:59169000-59210600	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr15:59169200-59182600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
36	chr15:59169200-59193200	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr15:59169200-59193800	Strong transcription	NHDF-Ad	bronchial
38	chr15:59169200-59195000	Strong transcription	Duodenum Mucosa	Duodenum
39	chr15:59169200-59223200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr15:59169400-59182800	Strong transcription	Fetal Stomach	stomach
41	chr15:59169400-59187000	Strong transcription	Brain Germinal Matrix	brain
42	chr15:59169400-59188800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr15:59169400-59188800	Strong transcription	HepG2	liver
44	chr15:59169400-59189600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr15:59169400-59193000	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr15:59169400-59193400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr15:59169400-59193800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr15:59169400-59210000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr15:59169400-59211800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr15:59169600-59179600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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