Variant report

Variant	rs202246729
Chromosome Location	chr15:76627794-76627795
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:61)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:76627490-76627806	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr15:76627501-76628913	H1-neurons	neurons:	n/a	n/a
3	MAX	chr15:76627487-76627902	H1-hESC	embryonic stem cell:	n/a	n/a
4	E2F6	chr15:76627410-76627910	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr15:76627540-76629356	GM12892	blood:	n/a	n/a
6	MXI1	chr15:76627471-76631959	SK-N-SH	brain:	n/a	n/a
7	ZNF143	chr15:76627603-76627835	H1-hESC	embryonic stem cell:	n/a	n/a
8	SIN3A	chr15:76627629-76628045	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr15:76627208-76629206	H1-hESC	embryonic stem cell:	n/a	n/a
10	TBP	chr15:76627480-76627868	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr15:76627635-76627817	HepG2	liver:	n/a	n/a
12	YY1	chr15:76627614-76628365	H1-hESC	embryonic stem cell:	n/a	chr15:76628209-76628218 chr15:76627668-76627682
13	POLR2A	chr15:76627629-76629370	GM18951	blood:	n/a	n/a
14	MAX	chr15:76627480-76627956	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr15:76627595-76627869	GM12878	blood:	n/a	n/a
16	TAF1	chr15:76627384-76627917	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr15:76627788-76629367	GM12891	blood:	n/a	n/a
18	MAZ	chr15:76627669-76627921	GM12878	blood:	n/a	n/a
19	CTBP2	chr15:76627475-76627861	H1-hESC	embryonic stem cell:	n/a	n/a
20	HMGN3	chr15:76627562-76627847	K562	blood:	n/a	n/a
21	POLR2A	chr15:76627633-76629333	GM18505	blood:	n/a	n/a
22	POLR2A	chr15:76627564-76629360	GM19193	blood:	n/a	n/a
23	E2F6	chr15:76627319-76628127	H1-hESC	embryonic stem cell:	n/a	n/a
24	MYC	chr15:76627631-76627834	H1-hESC	embryonic stem cell:	n/a	n/a
25	E2F6	chr15:76627615-76627818	K562	blood:	n/a	n/a
26	RAD21	chr15:76627581-76627823	H1-hESC	embryonic stem cell:	n/a	n/a
27	YY1	chr15:76627470-76627886	H1-hESC	embryonic stem cell:	n/a	chr15:76627668-76627682
28	HCFC1	chr15:76627381-76629883	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr15:76627471-76627822	ECC-1	luminal epithelium:	n/a	n/a
30	TCF12	chr15:76627556-76627899	H1-hESC	embryonic stem cell:	n/a	n/a
31	ZNF384	chr15:76627484-76627802	GM12878	blood:	n/a	n/a
32	POLR2A	chr15:76627521-76627868	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAX	chr15:76627408-76628064	H1-hESC	embryonic stem cell:	n/a	n/a
34	MTA3	chr15:76627505-76629337	GM12878	blood:	n/a	n/a
35	POLR2A	chr15:76627399-76631373	H1-neurons	neurons:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:76627788-76627838	HCM	heart:	n/a
2	chr15:76627788-76627838	AG04449	skin:	fetal
3	chr15:76627788-76627838	GM06990	blood:	n/a
4	chr15:76627788-76627838	U87	brain:	n/a
5	chr15:76627788-76627838	HRPEpiC	eye:	n/a
6	chr15:76627788-76627838	PANC-1	pancreas:	n/a
7	chr15:76627788-76627838	Caco-2	colon:	n/a
8	chr15:76627788-76627838	K562	blood:	n/a
9	chr15:76627788-76627838	GM12891	blood:	n/a
10	chr15:76627788-76627838	SK-N-MC	brain:	n/a
11	chr15:76627788-76627838	AoSMC	blood vessel:	n/a
12	chr15:76627788-76627838	A549	lung:	n/a
13	chr15:76627788-76627838	Hela-S3	cervix:	n/a
14	chr15:76627788-76627838	HCF	heart:	n/a
15	chr15:76627788-76627838	PrEC	prostate:	n/a
16	chr15:76627788-76627838	NHDF-neo	bronchial:	n/a
17	chr15:76627788-76627838	GM12892	blood:	n/a
18	chr15:76627788-76627838	HRE	kidney:	n/a
19	chr15:76627788-76627838	HEEpiC	esophagus:	n/a
20	chr15:76627788-76627838	BE2_C	brain:	n/a
21	chr15:76627788-76627838	SAEC	small airway:	n/a
22	chr15:76627788-76627838	GM12878	blood:	n/a
23	chr15:76627788-76627838	RPTEC	kidney:	n/a
24	chr15:76627788-76627838	HMEC	breast:	n/a
25	chr15:76627788-76627838	Jurkat	blood:	n/a
26	chr15:76627788-76627838	ovcar-3	ovarian:	n/a
27	chr15:76627788-76627838	HRCEpiC	kidney:	n/a
28	chr15:76627788-76627838	Hepatocyte	liver:	n/a
29	chr15:76627788-76627838	ECC-1	luminal epithelium:	n/a
30	chr15:76627788-76627838	AG10803	skin:	n/a
31	chr15:76627788-76627838	BJ	skin:	n/a
32	chr15:76627788-76627838	CMK	blood:	n/a
33	chr15:76627788-76627838	HEK293	kidney:	embryo
34	chr15:76627788-76627838	AG09319	gingival:	n/a
35	chr15:76627788-76627838	AG09309	skin:	n/a
36	chr15:76627788-76627838	HL-60	blood:	n/a
37	chr15:76627788-76627838	MCF-7	breast:	n/a
38	chr15:76627788-76627838	MCF10A-Er-Src	breast:	n/a
39	chr15:76627788-76627838	T-47D	breast:	n/a
40	chr15:76627788-76627838	PFSK-1	brain:	n/a
41	chr15:76627788-76627838	SK-N-SH	brain:	n/a
42	chr15:76627788-76627838	LNCaP	prostate:	n/a
43	chr15:76627788-76627838	NH-A	brain:	n/a
44	chr15:76627788-76627838	HAEpiC	amniotic membrane:	n/a
45	chr15:76627788-76627838	AG04450	lung:	fetal
46	chr15:76627788-76627838	GM19239	blood:	n/a
47	chr15:76627788-76627838	HCT-116	colon:	n/a
48	chr15:76627788-76627838	HepG2	liver:	n/a
49	chr15:76627788-76627838	NHBE	bronchial:	n/a
50	chr15:76627788-76627838	HUVEC	blood vessel:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:76601310..76610583-chr15:76618699..76634643,40	K562	blood:
2	chr15:76591467..76593414-chr15:76626364..76628156,2	K562	blood:
3	chr15:76598820..76601362-chr15:76625646..76628540,2	K562	blood:
4	chr15:76537469..76539301-chr15:76627220..76628943,2	MCF-7	breast:
5	chr15:76600511..76607655-chr15:76613791..76629933,32	MCF-7	breast:
6	chr15:76602419..76607116-chr15:76626572..76631104,6	MCF-7	breast:
7	chr15:76597896..76600825-chr15:76626656..76628546,2	MCF-7	breast:
8	chr15:76601574..76614388-chr15:76623703..76634730,38	K562	blood:
9	chr15:76591467..76593995-chr15:76626637..76628156,2	K562	blood:
10	chr15:76488844..76490782-chr15:76625306..76628294,2	K562	blood:
11	chr15:76583048..76585196-chr15:76627041..76629277,2	MCF-7	breast:

No data

Variant related genes	Relation type
ISL2	TF binding region
ISL2	CpG island
ENSG00000140374	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	nsv904399	chr15:76622903-76646575	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv827391	chr15:76626571-76636327	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76621000-76628000	Weak transcription	HSMMtube	muscle
2	chr15:76627000-76627800	Bivalent Enhancer	Left Ventricle	heart
3	chr15:76627000-76629000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr15:76627200-76627800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
5	chr15:76627400-76627800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr15:76627400-76627800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr15:76627400-76627800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
8	chr15:76627400-76627800	Bivalent Enhancer	Fetal Intestine Large	intestine
9	chr15:76627400-76627800	Enhancers	A549	lung
10	chr15:76627400-76627800	Bivalent Enhancer	HUVEC	blood vessel
11	chr15:76627400-76627800	Enhancers	K562	blood
12	chr15:76627400-76628000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr15:76627400-76628000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
14	chr15:76627400-76628000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr15:76627400-76628000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
16	chr15:76627400-76628000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
17	chr15:76627400-76628000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
18	chr15:76627400-76628000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr15:76627400-76628400	Active TSS	H9 Cell Line	embryonic stem cell
20	chr15:76627400-76628400	Bivalent Enhancer	Esophagus	oesophagus
21	chr15:76627400-76628600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
22	chr15:76627400-76629000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr15:76627400-76629000	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr15:76627400-76629400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
25	chr15:76627400-76629400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr15:76627400-76629600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
27	chr15:76627400-76635400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
28	chr15:76627600-76627800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
29	chr15:76627600-76627800	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr15:76627600-76627800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr15:76627600-76627800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr15:76627600-76627800	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr15:76627600-76627800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
34	chr15:76627600-76627800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
35	chr15:76627600-76627800	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr15:76627600-76627800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr15:76627600-76627800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr15:76627600-76627800	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr15:76627600-76627800	Bivalent Enhancer	Brain Anterior Caudate	brain
40	chr15:76627600-76627800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
41	chr15:76627600-76627800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
42	chr15:76627600-76627800	Flanking Bivalent TSS/Enh	Gastric	stomach
43	chr15:76627600-76627800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
44	chr15:76627600-76627800	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
45	chr15:76627600-76627800	Flanking Active TSS	Right Ventricle	heart
46	chr15:76627600-76627800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
47	chr15:76627600-76627800	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr15:76627600-76627800	Flanking Bivalent TSS/Enh	Thymus	Thymus
49	chr15:76627600-76627800	Flanking Bivalent TSS/Enh	HMEC	breast
50	chr15:76627600-76628000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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