Variant report

Variant	rs116356981
Chromosome Location	chr15:34502275-34502276
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	CBX3	chr15:34502233-34502541	K562	blood:	n/a	n/a
2	RAD21	chr15:34502105-34502710	A549	lung:	n/a	chr15:34502389-34502401 chr15:34502391-34502405 chr15:34502107-34502121 chr15:34502390-34502403 chr15:34502391-34502401 chr15:34502387-34502406
3	RAD21	chr15:34502039-34502642	HCT-116	colon:	n/a	chr15:34502389-34502401 chr15:34502391-34502405 chr15:34502107-34502121 chr15:34502390-34502403 chr15:34502391-34502401 chr15:34502387-34502406
4	TAF1	chr15:34501626-34502599	H1-hESC	embryonic stem cell:	n/a	n/a
5	HEY1	chr15:34501735-34502414	HepG2	liver:	n/a	chr15:34502111-34502126 chr15:34502059-34502074
6	POLR2A	chr15:34501759-34502473	A549	lung:	n/a	n/a
7	POU2F2	chr15:34502002-34502515	GM12878	blood:	n/a	chr15:34502108-34502120
8	POLR2A	chr15:34501687-34502545	PANC-1	pancreas:	n/a	n/a
9	NR2F2	chr15:34502034-34502679	K562	blood:	n/a	chr15:34502469-34502484
10	SIN3AK20	chr15:34502020-34502567	A549	lung:	n/a	n/a
11	GATA3	chr15:34502081-34502610	T-47D	breast:	n/a	n/a
12	IRF1	chr15:34501543-34502504	K562	blood:	n/a	chr15:34502332-34502346 chr15:34502437-34502451 chr15:34502456-34502465 chr15:34501967-34501981
13	POLR2A	chr15:34501729-34502469	A549	lung:	n/a	n/a
14	YY1	chr15:34501671-34502479	HepG2	liver:	n/a	chr15:34501922-34501933 chr15:34502061-34502075 chr15:34501925-34501939 chr15:34502111-34502125
15	CTCF	chr15:34502257-34502548	GM10248	blood:	n/a	chr15:34502384-34502405 chr15:34502392-34502402 chr15:34502389-34502407 chr15:34502391-34502404 chr15:34502390-34502406 chr15:34502509-34502516 chr15:34502395-34502404
16	POLR2A	chr15:34502010-34502467	HepG2	liver:	n/a	n/a
17	REST	chr15:34502011-34502421	PFSK-1	brain:	n/a	chr15:34502202-34502212
18	MYC	chr15:34501601-34502606	K562	blood:	n/a	n/a
19	MAX	chr15:34502144-34502558	H1-hESC	embryonic stem cell:	n/a	n/a
20	PAX5	chr15:34502141-34502594	GM12878	blood:	n/a	n/a
21	POLR2A	chr15:34501981-34502424	HepG2	liver:	n/a	n/a
22	TBP	chr15:34502071-34502516	GM12878	blood:	n/a	n/a
23	YY1	chr15:34501889-34502552	SK-N-SH_RA	brain:	n/a	chr15:34501922-34501933 chr15:34502061-34502075 chr15:34501925-34501939 chr15:34502111-34502125
24	UBTF	chr15:34501574-34502561	K562	blood:	n/a	n/a
25	MAZ	chr15:34501808-34502554	GM12878	blood:	n/a	n/a
26	POLR2A	chr15:34501774-34502602	GM19193	blood:	n/a	n/a
27	SIN3AK20	chr15:34501695-34502417	K562	blood:	n/a	n/a
28	EP300	chr15:34501788-34502593	HepG2	liver:	n/a	chr15:34502114-34502123 chr15:34502295-34502311 chr15:34502099-34502115
29	TFAP2A	chr15:34501714-34502712	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr15:34502182-34502605	T-47D	breast:	n/a	chr15:34502384-34502405 chr15:34502392-34502402 chr15:34502389-34502407 chr15:34502391-34502404 chr15:34502390-34502406 chr15:34502509-34502516 chr15:34502395-34502404
31	GABPA	chr15:34501819-34502535	K562	blood:	n/a	chr15:34502114-34502123 chr15:34502116-34502125
32	TAF7	chr15:34501722-34502519	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr15:34501749-34502530	GM18526	blood:	n/a	n/a
34	HCFC1	chr15:34501749-34502562	K562	blood:	n/a	n/a
35	RAD21	chr15:34502200-34502559	GM12878	blood:	n/a	chr15:34502389-34502401 chr15:34502391-34502405 chr15:34502390-34502403 chr15:34502391-34502401 chr15:34502387-34502406
36	MAX	chr15:34501645-34502591	K562	blood:	n/a	n/a
37	RAD21	chr15:34502175-34502614	SK-N-SH_RA	brain:	n/a	chr15:34502389-34502401 chr15:34502391-34502405 chr15:34502390-34502403 chr15:34502391-34502401 chr15:34502387-34502406
38	RAD21	chr15:34502129-34502572	HepG2	liver:	n/a	chr15:34502389-34502401 chr15:34502391-34502405 chr15:34502390-34502403 chr15:34502391-34502401 chr15:34502387-34502406
39	TAF1	chr15:34501857-34502414	Hela-S3	cervix:	n/a	n/a
40	ETS1	chr15:34502047-34502626	A549	lung:	n/a	n/a
41	YY1	chr15:34501784-34502561	SK-N-SH_RA	brain:	n/a	chr15:34501922-34501933 chr15:34502061-34502075 chr15:34501925-34501939 chr15:34502111-34502125
42	TCF7L2	chr15:34501847-34502537	HCT-116	colon:	n/a	n/a
43	POLR2A	chr15:34501725-34502529	K562	blood:	n/a	n/a
44	HEY1	chr15:34501703-34502380	K562	blood:	n/a	chr15:34502111-34502126 chr15:34502059-34502074
45	MAX	chr15:34501680-34502610	NB4	blood:	n/a	n/a
46	RAD21	chr15:34502109-34502693	ECC-1	luminal epithelium:	n/a	chr15:34502389-34502401 chr15:34502391-34502405 chr15:34502390-34502403 chr15:34502391-34502401 chr15:34502387-34502406
47	POLR2A	chr15:34501632-34502549	HUVEC	blood vessel:	n/a	n/a
48	E2F4	chr15:34502114-34502541	GM12878	blood:	n/a	chr15:34502114-34502123
49	POLR2A	chr15:34502038-34502551	U87	brain:	n/a	n/a
50	FOS	chr15:34502273-34502505	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:34499795..34503886-chr15:34627014..34631557,6	K562	blood:
2	chr15:34500839..34504564-chr15:34529168..34532268,3	K562	blood:
3	chr15:34500871..34503422-chr15:34659158..34662481,4	K562	blood:
4	chr15:34499795..34502298-chr15:34629083..34632074,3	K562	blood:
5	chr15:34498121..34503791-chr15:34514506..34519551,14	K562	blood:
6	chr15:34391225..34395745-chr15:34498845..34504196,8	K562	blood:
7	chr15:34501834..34502427-chr17:52978030..52978670,2	Hela-S3	cervix:
8	chr15:34329770..34332450-chr15:34500868..34502911,3	K562	blood:
9	chr15:34330950..34333091-chr15:34501411..34503652,2	K562	blood:
10	chr15:34502043..34502681-chr6:27100763..27101327,2	Hela-S3	cervix:
11	chr15:34497680..34504001-chr15:34514973..34521212,14	K562	blood:
12	chr11:62432317..62432844-chr15:34501985..34502487,2	HCT-116	colon:
13	chr15:34500616..34503501-chr15:34610779..34612770,2	K562	blood:
14	chr15:34491377..34494902-chr15:34500682..34503965,3	K562	blood:
15	chr15:34391885..34395742-chr15:34500701..34502399,4	K562	blood:

Variant related genes	Relation type
KATNBL1	TF binding region
ENSG00000169857	Chromatin interaction
ENSG00000176454	Chromatin interaction
ENSG00000134153	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000134152	Chromatin interaction
ENSG00000140199	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000182405	Chromatin interaction
ENSG00000128463	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000141198	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv1052804	chr15:34498529-34841447	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv542341	chr15:34498529-34841447	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1045173	chr15:34501055-34596995	Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34499800-34502600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr15:34500200-34502600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr15:34500400-34502400	Active TSS	H1 Cell Line	embryonic stem cell
4	chr15:34500400-34502400	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr15:34500400-34502600	Active TSS	HSMM	muscle
6	chr15:34500400-34502600	Active TSS	HSMMtube	muscle
7	chr15:34500600-34502400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr15:34500600-34502400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr15:34500600-34502400	Active TSS	Fetal Muscle Leg	muscle
10	chr15:34500600-34502400	Active TSS	HMEC	breast
11	chr15:34500600-34502400	Active TSS	NHDF-Ad	bronchial
12	chr15:34500600-34502600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr15:34500600-34502600	Active TSS	Placenta	Placenta
14	chr15:34500600-34502600	Active TSS	GM12878-XiMat	blood
15	chr15:34500600-34502800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr15:34500800-34502400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr15:34500800-34502400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr15:34500800-34502400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr15:34500800-34502400	Active TSS	Fetal Muscle Trunk	muscle
20	chr15:34500800-34502400	Active TSS	K562	blood
21	chr15:34500800-34502600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr15:34500800-34502600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr15:34500800-34502600	Active TSS	Right Atrium	heart
24	chr15:34501000-34502400	Active TSS	H9 Cell Line	embryonic stem cell
25	chr15:34501000-34502400	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr15:34501000-34502400	Active TSS	Brain Anterior Caudate	brain
27	chr15:34501000-34502400	Active TSS	Gastric	stomach
28	chr15:34501000-34502400	Active TSS	Left Ventricle	heart
29	chr15:34501000-34502600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr15:34501000-34502600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr15:34501000-34502600	Active TSS	Ovary	ovary
32	chr15:34501000-34502600	Active TSS	Psoas Muscle	Psoas
33	chr15:34501000-34502600	Active TSS	Right Ventricle	heart
34	chr15:34501000-34502600	Active TSS	NHLF	lung
35	chr15:34501200-34502400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr15:34501200-34502400	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr15:34501200-34502400	Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr15:34501200-34502400	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr15:34501200-34502400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr15:34501200-34502400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr15:34501200-34502400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr15:34501200-34502400	Active TSS	Primary T cells fromperipheralblood	blood
43	chr15:34501200-34502400	Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr15:34501200-34502400	Active TSS	Aorta	Aorta
45	chr15:34501200-34502400	Active TSS	Colon Smooth Muscle	Colon
46	chr15:34501200-34502400	Active TSS	Fetal Kidney	kidney
47	chr15:34501200-34502400	Active TSS	Fetal Stomach	stomach
48	chr15:34501200-34502400	Active TSS	HUVEC	blood vessel
49	chr15:34501200-34502600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr15:34501200-34502600	Active TSS	Muscle Satellite Cultured Cells	--

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