Variant report

Variant	rs71412568
Chromosome Location	chr15:93254856-93254857
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:93254831-93255085	H1-hESC	embryonic stem cell:	n/a	n/a
2	YY1	chr15:93254828-93255120	H1-hESC	embryonic stem cell:	n/a	chr15:93254992-93255001 chr15:93255025-93255034
3	POLR2A	chr15:93254753-93255030	MCF-7	breast:	n/a	n/a
4	POLR2A	chr15:93254663-93255036	H1-hESC	embryonic stem cell:	n/a	n/a
5	HEY1	chr15:93254786-93255180	K562	blood:	n/a	n/a
6	TEAD4	chr15:93254635-93255027	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr15:93254709-93255031	MCF-7	breast:	n/a	n/a
8	POLR2A	chr15:93254852-93255058	Hela-S3	cervix:	n/a	n/a
9	E2F6	chr15:93254706-93255194	H1-hESC	embryonic stem cell:	n/a	chr15:93255025-93255034 chr15:93255022-93255034 chr15:93254936-93254948
10	POLR2A	chr15:93254327-93255416	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD2	chr15:93254801-93254999	H1-hESC	embryonic stem cell:	n/a	chr15:93254939-93254949
12	TBP	chr15:93254688-93255079	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr15:93254814-93255102	H1-hESC	embryonic stem cell:	n/a	n/a
14	RAD21	chr15:93254771-93254897	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr15:93254774-93255029	K562	blood:	n/a	n/a
16	TAF1	chr15:93254775-93255218	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr15:93254724-93255147	H1-hESC	embryonic stem cell:	n/a	n/a
18	TAF1	chr15:93254705-93255133	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr15:93254716-93255169	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr15:93254845-93255427	GM12878	blood:	n/a	n/a
21	E2F6	chr15:93254581-93255162	H1-hESC	embryonic stem cell:	n/a	chr15:93255025-93255034 chr15:93255022-93255034 chr15:93254936-93254948
22	MAX	chr15:93254717-93255014	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr15:93254851-93255028	Gliobla	brain:	n/a	n/a
24	RAD21	chr15:93254606-93255158	H1-hESC	embryonic stem cell:	n/a	n/a
25	BACH1	chr15:93254817-93255076	H1-hESC	embryonic stem cell:	n/a	n/a
26	SIN3A	chr15:93254771-93254958	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:93254852-93254902	Jurkat	blood:	n/a
2	chr15:93254852-93254902	IMR90	lung:	fetal
3	chr15:93254852-93254902	AG04450	lung:	fetal
4	chr15:93254852-93254902	NH-A	brain:	n/a
5	chr15:93254852-93254902	CMK	blood:	n/a
6	chr15:93254852-93254902	HAEpiC	amniotic membrane:	n/a
7	chr15:93254852-93254902	AoSMC	blood vessel:	n/a
8	chr15:93254852-93254902	HCM	heart:	n/a
9	chr15:93254852-93254902	HCPEpiC	choroid plexus:	n/a
10	chr15:93254852-93254902	A549	lung:	n/a
11	chr15:93254852-93254902	SAEC	small airway:	n/a
12	chr15:93254852-93254902	SK-N-SH	brain:	n/a
13	chr15:93254852-93254902	Hepatocyte	liver:	n/a
14	chr15:93254852-93254902	MCF-7	breast:	n/a
15	chr15:93254852-93254902	NT2-D1	testis:	n/a
16	chr15:93254852-93254902	HRE	kidney:	n/a
17	chr15:93254852-93254902	BE2_C	brain:	n/a
18	chr15:93254852-93254902	HRPEpiC	eye:	n/a
19	chr15:93254852-93254902	ECC-1	luminal epithelium:	n/a
20	chr15:93254852-93254902	LNCaP	prostate:	n/a
21	chr15:93254852-93254902	AG04449	skin:	fetal
22	chr15:93254852-93254902	GM19239	blood:	n/a
23	chr15:93254852-93254902	T-47D	breast:	n/a
24	chr15:93254852-93254902	HPAEpiC	pulmonary alveolar:	n/a
25	chr15:93254852-93254902	NB4	blood:	n/a
26	chr15:93254852-93254902	ovcar-3	ovarian:	n/a
27	chr15:93254852-93254902	Caco-2	colon:	n/a
28	chr15:93254852-93254902	AG09319	gingival:	n/a
29	chr15:93254852-93254902	K562	blood:	n/a
30	chr15:93254852-93254902	HEK293	kidney:	embryo
31	chr15:93254852-93254902	AG10803	skin:	n/a
32	chr15:93254852-93254902	GM12878	blood:	n/a
33	chr15:93254852-93254902	SK-N-SH_RA	brain:	n/a
34	chr15:93254852-93254902	HRCEpiC	kidney:	n/a
35	chr15:93254852-93254902	GM12891	blood:	n/a
36	chr15:93254852-93254902	NHBE	bronchial:	n/a
37	chr15:93254852-93254902	U87	brain:	n/a
38	chr15:93254852-93254902	GM12892	blood:	n/a
39	chr15:93254852-93254902	RPTEC	kidney:	n/a
40	chr15:93254852-93254902	NHDF-neo	bronchial:	n/a
41	chr15:93254852-93254902	HL-60	blood:	n/a
42	chr15:93254852-93254902	HCF	heart:	n/a
43	chr15:93254852-93254902	PrEC	prostate:	n/a
44	chr15:93254852-93254902	HepG2	liver:	n/a
45	chr15:93254852-93254902	HEEpiC	esophagus:	n/a
46	chr15:93254852-93254902	H1-hESC	embryonic stem cell:	embryo
47	chr15:93254852-93254902	AG09309	skin:	n/a
48	chr15:93254852-93254902	SK-N-MC	brain:	n/a
49	chr15:93254852-93254902	PANC-1	pancreas:	n/a
50	chr15:93254852-93254902	HUVEC	blood vessel:	n/a

No data

Variant related genes	Relation type
HMGN1P38	TF binding region
HMGN1P38	CpG island

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12439654	0.86[EUR][1000 genomes]
rs12440201	0.86[EUR][1000 genomes]
rs12442362	0.83[EUR][1000 genomes]
rs12442555	0.86[EUR][1000 genomes]
rs12906973	0.87[EUR][1000 genomes]
rs34188575	0.86[EUR][1000 genomes]
rs34913881	0.86[EUR][1000 genomes]
rs35277112	0.83[EUR][1000 genomes]
rs35351684	0.83[EUR][1000 genomes]
rs35984805	0.86[EUR][1000 genomes]
rs4778033	0.83[EUR][1000 genomes]
rs58894958	0.83[EUR][1000 genomes]
rs71412560	0.83[EUR][1000 genomes]
rs71412561	0.83[EUR][1000 genomes]
rs71412562	0.82[EUR][1000 genomes]
rs71412563	0.83[EUR][1000 genomes]
rs71412566	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037972	chr15:92804908-93270761	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv904499	chr15:92914795-93472582	Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	163 gene(s)	inside rSNPs	diseases
3	nsv948738	chr15:93070742-93728147	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv1049490	chr15:93134405-93591660	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	151 gene(s)	inside rSNPs	diseases
5	nsv1040501	chr15:93177153-93286393	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv974620	chr15:93252874-93258773	Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93245600-93257400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr15:93246200-93257400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr15:93249400-93257400	Weak transcription	Brain Substantia Nigra	brain
4	chr15:93249600-93257200	Weak transcription	Brain Anterior Caudate	brain
5	chr15:93250200-93257200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr15:93253200-93257200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr15:93253200-93257200	Weak transcription	HUVEC	blood vessel
8	chr15:93253400-93256600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr15:93253400-93257200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr15:93254200-93255200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr15:93254400-93255000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr15:93254600-93255000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr15:93254600-93255000	Flanking Active TSS	Placenta	Placenta
14	chr15:93254600-93255200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
15	chr15:93254800-93255000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr15:93254800-93257400	Weak transcription	Lung	lung

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