Variant report

Variant	rs77972579
Chromosome Location	chr15:79243576-79243577
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr15:79243317-79243647	HepG2	liver:	n/a	n/a
2	RAD21	chr15:79243332-79243654	IMR90	lung:	n/a	n/a
3	CTCF	chr15:79243560-79243710	HAc	cerebellar:	n/a	n/a
4	CTCF	chr15:79243460-79243610	RPTEC	kidney:	n/a	n/a
5	CTCF	chr15:79243440-79243590	HEEpiC	esophagus:	n/a	n/a
6	RAD21	chr15:79243208-79243770	HCT-116	colon:	n/a	n/a
7	CTCF	chr15:79243440-79243590	NHEK	skin:	n/a	n/a
8	RAD21	chr15:79243368-79243585	SK-N-SH_RA	brain:	n/a	n/a
9	CTCF	chr15:79243440-79243590	NHLF	lung:	n/a	n/a
10	CTCF	chr15:79243440-79243590	BE2_C	brain:	n/a	n/a
11	RAD21	chr15:79243305-79243578	HepG2	liver:	n/a	n/a
12	RCOR1	chr15:79243402-79243597	HepG2	liver:	n/a	n/a
13	MAFK	chr15:79243316-79243605	IMR90	lung:	n/a	n/a
14	CTCF	chr15:79243440-79243590	MCF-7	breast:	n/a	n/a
15	MAFK	chr15:79243338-79243646	HepG2	liver:	n/a	n/a
16	CTCF	chr15:79243440-79243590	HUVEC	blood vessel:	n/a	n/a
17	CTCF	chr15:79243297-79243636	IMR90	lung:	n/a	n/a
18	CTCF	chr15:79243380-79243670	GM12873	blood:	n/a	n/a
19	TEAD4	chr15:79243236-79243696	HepG2	liver:	n/a	n/a
20	CTCF	chr15:79243440-79243590	HFF-Myc	foreskin:	n/a	n/a
21	MXI1	chr15:79243445-79243592	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr15:79243440-79243590	AoAF	blood vessel:	n/a	n/a
23	CTCF	chr15:79243269-79243598	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:79243526-79243576	T-47D	breast:	n/a
2	chr15:79243526-79243576	AG10803	skin:	n/a
3	chr15:79243526-79243576	HEK293	kidney:	embryo
4	chr15:79243526-79243576	HRCEpiC	kidney:	n/a
5	chr15:79243526-79243576	HRE	kidney:	n/a
6	chr15:79243526-79243576	AoSMC	blood vessel:	n/a
7	chr15:79243526-79243576	LNCaP	prostate:	n/a
8	chr15:79243526-79243576	MCF-7	breast:	n/a
9	chr15:79243526-79243576	H1-hESC	embryonic stem cell:	embryo
10	chr15:79243526-79243576	PFSK-1	brain:	n/a
11	chr15:79243526-79243576	HCM	heart:	n/a
12	chr15:79243526-79243576	HEEpiC	esophagus:	n/a
13	chr15:79243526-79243576	NT2-D1	testis:	n/a
14	chr15:79243526-79243576	ProgFib	skin:	n/a
15	chr15:79243526-79243576	HUVEC	blood vessel:	n/a
16	chr15:79243526-79243576	HIPEpiC	eye:	n/a
17	chr15:79243526-79243576	IMR90	lung:	fetal
18	chr15:79243526-79243576	PrEC	prostate:	n/a
19	chr15:79243526-79243576	AG04450	lung:	fetal
20	chr15:79243526-79243576	HCPEpiC	choroid plexus:	n/a
21	chr15:79243526-79243576	GM12892	blood:	n/a
22	chr15:79243526-79243576	SK-N-SH_RA	brain:	n/a
23	chr15:79243526-79243576	CMK	blood:	n/a
24	chr15:79243526-79243576	HL-60	blood:	n/a
25	chr15:79243526-79243576	AG09319	gingival:	n/a
26	chr15:79243526-79243576	HepG2	liver:	n/a
27	chr15:79243526-79243576	HAEpiC	amniotic membrane:	n/a
28	chr15:79243526-79243576	Hela-S3	cervix:	n/a
29	chr15:79243526-79243576	SK-N-SH	brain:	n/a
30	chr15:79243526-79243576	MCF10A-Er-Src	breast:	n/a
31	chr15:79243526-79243576	NHBE	bronchial:	n/a
32	chr15:79243526-79243576	GM12891	blood:	n/a
33	chr15:79243526-79243576	HNPCEpiC	eye:	n/a
34	chr15:79243526-79243576	HMEC	breast:	n/a
35	chr15:79243526-79243576	Caco-2	colon:	n/a
36	chr15:79243526-79243576	NB4	blood:	n/a
37	chr15:79243526-79243576	NHDF-neo	bronchial:	n/a
38	chr15:79243526-79243576	Jurkat	blood:	n/a
39	chr15:79243526-79243576	K562	blood:	n/a
40	chr15:79243526-79243576	AG04449	skin:	fetal
41	chr15:79243526-79243576	Hepatocyte	liver:	n/a
42	chr15:79243526-79243576	SKMC	muscle:	n/a
43	chr15:79243526-79243576	BE2_C	brain:	n/a
44	chr15:79243526-79243576	GM19239	blood:	n/a
45	chr15:79243526-79243576	GM06990	blood:	n/a
46	chr15:79243526-79243576	HCF	heart:	n/a
47	chr15:79243526-79243576	HPAEpiC	pulmonary alveolar:	n/a
48	chr15:79243526-79243576	GM12878	blood:	n/a
49	chr15:79243526-79243576	AG09309	skin:	n/a
50	chr15:79243526-79243576	HCT-116	colon:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:79223545..79225984-chr15:79241136..79243673,2	MCF-7	breast:
2	chr15:79198022..79200286-chr15:79243264..79245188,2	K562	blood:
3	chr15:79242855..79244395-chr15:79271553..79274104,2	MCF-7	breast:
4	chr15:79242274..79244417-chr15:79247042..79249871,2	MCF-7	breast:
5	chr15:79242281..79244797-chr15:79245388..79247150,2	K562	blood:
6	chr15:79238657..79240315-chr15:79242629..79245251,2	K562	blood:
7	chr15:79243049..79243885-chr15:87130991..87131736,2	MCF-7	breast:

No data

Variant related genes	Relation type
CTSH	TF binding region
CTSH	CpG island
ENSG00000103811	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33573	chr15:79053484-79293881	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv904433	chr15:79243571-79310288	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79237800-79243600	Weak transcription	Right Atrium	heart
2	chr15:79237800-79243600	Weak transcription	Spleen	Spleen
3	chr15:79237800-79244200	Weak transcription	Psoas Muscle	Psoas
4	chr15:79238600-79244200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr15:79238600-79252600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr15:79239000-79243600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr15:79240800-79245400	Enhancers	Stomach Mucosa	stomach
8	chr15:79241000-79245200	Enhancers	Liver	Liver
9	chr15:79241600-79244000	Enhancers	NHEK	skin
10	chr15:79241600-79244200	Enhancers	Gastric	stomach
11	chr15:79241600-79245000	Enhancers	Pancreas	Pancrea
12	chr15:79241800-79244800	Enhancers	Fetal Intestine Large	intestine
13	chr15:79242000-79245400	Enhancers	Duodenum Mucosa	Duodenum
14	chr15:79242200-79244400	Enhancers	Fetal Kidney	kidney
15	chr15:79242200-79244800	Enhancers	Lung	lung
16	chr15:79242400-79243800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr15:79242400-79244000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr15:79242400-79244200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr15:79242400-79244400	Enhancers	Adipose Nuclei	Adipose
20	chr15:79242400-79244800	Enhancers	Left Ventricle	heart
21	chr15:79242600-79244000	Weak transcription	Esophagus	oesophagus
22	chr15:79242600-79245000	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr15:79242800-79243600	Weak transcription	Small Intestine	intestine
24	chr15:79242800-79243800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr15:79242800-79244000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr15:79242800-79244200	Weak transcription	Fetal Intestine Small	intestine
27	chr15:79243000-79244600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr15:79243200-79243800	Flanking Active TSS	HepG2	liver
29	chr15:79243200-79244200	Enhancers	Fetal Muscle Leg	muscle
30	chr15:79243200-79244600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr15:79243200-79244600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr15:79243200-79244600	Enhancers	A549	lung
33	chr15:79243200-79244600	Enhancers	GM12878-XiMat	blood
34	chr15:79243200-79244800	Enhancers	HMEC	breast
35	chr15:79243200-79245000	Enhancers	Primary B cells from peripheral blood	blood
36	chr15:79243200-79245000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr15:79243200-79245400	Enhancers	Hela-S3	cervix
38	chr15:79243400-79243800	Enhancers	Brain Substantia Nigra	brain
39	chr15:79243400-79243800	Enhancers	Right Ventricle	heart
40	chr15:79243400-79244200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr15:79243400-79244200	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr15:79243400-79244400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr15:79243400-79244600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr15:79243400-79244600	Enhancers	Fetal Lung	lung
45	chr15:79243400-79244800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr15:79243400-79244800	Enhancers	Ovary	ovary

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