Variant report

Variant	rs4886986
Chromosome Location	chr15:78276007-78276008
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:78276002-78276232	IMR90	lung:	n/a	n/a
2	CTCF	chr15:78275906-78276267	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr15:78275980-78276130	AG10803	skin:	n/a	n/a
4	CTCF	chr15:78275880-78276030	NHDF-neo	bronchial:	n/a	n/a
5	CTCF	chr15:78276000-78276150	A549	lung:	n/a	n/a
6	CTCF	chr15:78275848-78276247	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr15:78275920-78276070	HCM	heart:	n/a	n/a
8	RAD21	chr15:78275784-78276548	SK-N-SH	brain:	n/a	n/a
9	RAD21	chr15:78275927-78276281	SK-N-SH_RA	brain:	n/a	n/a
10	CTCF	chr15:78276000-78276150	HCPEpiC	choroid plexus:	n/a	n/a
11	CTCF	chr15:78276000-78276150	GM12864	blood:	n/a	n/a
12	CTCF	chr15:78275999-78276239	GM19238	blood:	n/a	n/a
13	RAD21	chr15:78275971-78276252	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr15:78276000-78276150	HA-sp	spinal cord:	n/a	n/a
15	CTCF	chr15:78275860-78276010	HCM	heart:	n/a	n/a
16	ZNF143	chr15:78275969-78276163	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr15:78276000-78276150	HUVEC	blood vessel:	n/a	n/a
18	CTCF	chr15:78276000-78276150	HVMF	connective:	n/a	n/a
19	CTCF	chr15:78275920-78276070	NB4	blood:	n/a	n/a
20	RAD21	chr15:78275843-78276395	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr15:78276000-78276150	AG09319	gingival:	n/a	n/a
22	CTCF	chr15:78276005-78276212	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr15:78275880-78276030	HFF-Myc	foreskin:	n/a	n/a
24	RAD21	chr15:78275926-78276272	HepG2	liver:	n/a	n/a
25	CTCF	chr15:78276000-78276150	Caco-2	colon:	n/a	n/a
26	CTCF	chr15:78275920-78276070	AG04450	lung:	n/a	n/a
27	CTCF	chr15:78275900-78276050	GM12873	blood:	n/a	n/a
28	CTCF	chr15:78275900-78276050	HAc	cerebellar:	n/a	n/a
29	CTCF	chr15:78275962-78276234	GM12878	blood:	n/a	n/a
30	CTCF	chr15:78275920-78276070	HRE	kidney:	n/a	n/a
31	CTCF	chr15:78276000-78276150	GM12873	blood:	n/a	n/a
32	CTCF	chr15:78275960-78276110	GM12871	blood:	n/a	n/a
33	CTCF	chr15:78276000-78276150	HPAF	blood vessel:	n/a	n/a
34	CTCF	chr15:78275940-78276090	GM12872	blood:	n/a	n/a
35	RAD21	chr15:78275969-78276241	SK-N-SH_RA	brain:	n/a	n/a
36	CTCF	chr15:78275980-78276130	HFF	foreskin:	n/a	n/a
37	CTCF	chr15:78275960-78276110	HFF-Myc	foreskin:	n/a	n/a
38	CTCF	chr15:78275920-78276070	HVMF	connective:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:78275921..78279838-chr15:78281220..78285014,4	MCF-7	breast:
2	chr15:78275999..78279475-chr15:78281569..78284408,3	MCF-7	breast:
3	chr15:78273690..78276201-chr15:78283311..78284998,2	K562	blood:

No data

Variant related genes	Relation type
ADAMTS7P3	TF binding region

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1053506	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10775213	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10775214	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10775215	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10851899	0.81[AFR][1000 genomes]
rs11072715	0.87[AFR][1000 genomes]
rs11072725	1.00[ASN][1000 genomes]
rs11072726	1.00[ASN][1000 genomes]
rs11631951	0.81[EUR][1000 genomes]
rs11633329	1.00[ASN][1000 genomes]
rs11633569	1.00[ASN][1000 genomes]
rs11636889	1.00[ASN][1000 genomes]
rs12595595	1.00[ASN][1000 genomes]
rs12898535	1.00[ASN][1000 genomes]
rs12900731	1.00[ASN][1000 genomes]
rs12901492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12913206	1.00[ASN][1000 genomes]
rs12915847	1.00[ASN][1000 genomes]
rs12916320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1348256	1.00[ASN][1000 genomes]
rs1837911	1.00[ASN][1000 genomes]
rs1837912	1.00[ASN][1000 genomes]
rs2015951	1.00[ASN][1000 genomes]
rs2867984	1.00[ASN][1000 genomes]
rs28680277	1.00[ASN][1000 genomes]
rs3972617	1.00[ASN][1000 genomes]
rs4243072	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4316722	1.00[ASN][1000 genomes]
rs4371121	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4411474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4886551	0.90[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4886552	1.00[ASN][1000 genomes]
rs4886556	1.00[ASN][1000 genomes]
rs4886985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4886987	1.00[ASN][1000 genomes]
rs4886990	1.00[ASN][1000 genomes]
rs4886991	1.00[ASN][1000 genomes]
rs4886993	1.00[ASN][1000 genomes]
rs4886997	1.00[ASN][1000 genomes]
rs4886998	1.00[ASN][1000 genomes]
rs4887001	1.00[ASN][1000 genomes]
rs4887002	1.00[ASN][1000 genomes]
rs4887003	1.00[ASN][1000 genomes]
rs4887004	1.00[ASN][1000 genomes]
rs4997420	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61732053	1.00[ASN][1000 genomes]
rs7163997	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7169882	1.00[ASN][1000 genomes]
rs7170101	1.00[ASN][1000 genomes]
rs7170286	1.00[ASN][1000 genomes]
rs7170452	1.00[ASN][1000 genomes]
rs7175192	1.00[ASN][1000 genomes]
rs7175235	1.00[ASN][1000 genomes]
rs7175975	1.00[ASN][1000 genomes]
rs8025423	1.00[ASN][1000 genomes]
rs8033216	1.00[ASN][1000 genomes]
rs894295	1.00[ASN][1000 genomes]
rs894296	1.00[ASN][1000 genomes]
rs894302	1.00[ASN][1000 genomes]
rs9788640	1.00[ASN][1000 genomes]
rs9920180	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806097	chr15:77817889-78301377	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	esv1833316	chr15:78081307-78328108	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78268000-78276200	Weak transcription	HSMM	muscle
2	chr15:78268400-78281800	Weak transcription	Right Atrium	heart
3	chr15:78271800-78282400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr15:78275200-78276200	Weak transcription	Fetal Heart	heart
5	chr15:78275400-78277800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr15:78275600-78276800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr15:78275600-78276800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr15:78275600-78276800	Enhancers	HepG2	liver
9	chr15:78275600-78277000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr15:78275800-78276200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
11	chr15:78275800-78276400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr15:78275800-78276600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr15:78275800-78276600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr15:78275800-78276600	Enhancers	Right Ventricle	heart
15	chr15:78275800-78276800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr15:78275800-78276800	Enhancers	Fetal Lung	lung
17	chr15:78275800-78276800	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr15:78275800-78276800	Enhancers	Placenta	Placenta
19	chr15:78275800-78276800	Bivalent Enhancer	Fetal Stomach	stomach
20	chr15:78275800-78276800	Enhancers	Hela-S3	cervix
21	chr15:78275800-78277600	Enhancers	Esophagus	oesophagus
22	chr15:78275800-78278000	Enhancers	Spleen	Spleen
23	chr15:78276000-78276400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr15:78276000-78276400	Enhancers	HSMMtube	muscle
25	chr15:78276000-78276600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr15:78276000-78276800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr15:78276000-78276800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr15:78276000-78276800	Enhancers	Ovary	ovary
29	chr15:78276000-78276800	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr15:78276000-78276800	Enhancers	HMEC	breast
31	chr15:78276000-78279400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr15:78276000-78279400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:78276000-78285200	Weak transcription	H9 Cell Line	embryonic stem cell

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