Variant report

Variant	rs181220345
Chromosome Location	chr15:76627547-76627548
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
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	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	GTF2F1	chr15:76627541-76627757	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr15:76627208-76629206	H1-hESC	embryonic stem cell:	n/a	n/a
9	ZNF384	chr15:76627407-76627629	K562	blood:	n/a	n/a
10	TBP	chr15:76627480-76627868	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr15:76627480-76627784	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr15:76627480-76627956	H1-hESC	embryonic stem cell:	n/a	n/a
13	TAF1	chr15:76627384-76627917	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTBP2	chr15:76627475-76627861	H1-hESC	embryonic stem cell:	n/a	n/a
15	E2F6	chr15:76627319-76628127	H1-hESC	embryonic stem cell:	n/a	n/a
16	YY1	chr15:76627470-76627886	H1-hESC	embryonic stem cell:	n/a	chr15:76627668-76627682
17	HCFC1	chr15:76627381-76629883	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr15:76627471-76627822	ECC-1	luminal epithelium:	n/a	n/a
19	ZNF384	chr15:76627484-76627802	GM12878	blood:	n/a	n/a
20	POLR2A	chr15:76627521-76627868	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAX	chr15:76627408-76628064	H1-hESC	embryonic stem cell:	n/a	n/a
22	MTA3	chr15:76627505-76629337	GM12878	blood:	n/a	n/a
23	POLR2A	chr15:76627399-76631373	H1-neurons	neurons:	n/a	n/a

No data

(count:12 , 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	chr15:76617028..76618858-chr15:76625946..76627693,2	MCF-7	breast:
10	chr15:76591467..76593995-chr15:76626637..76628156,2	K562	blood:
11	chr15:76488844..76490782-chr15:76625306..76628294,2	K562	blood:
12	chr15:76583048..76585196-chr15:76627041..76629277,2	MCF-7	breast:

No data

Variant related genes	Relation type
ISL2	TF binding region
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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76621000-76628000	Weak transcription	HSMMtube	muscle
2	chr15:76626400-76627600	Strong transcription	Right Atrium	heart
3	chr15:76626600-76627600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:76626800-76627600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr15:76626800-76627600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr15:76627000-76627600	Bivalent Enhancer	Placenta	Placenta
7	chr15:76627000-76627800	Bivalent Enhancer	Left Ventricle	heart
8	chr15:76627000-76629000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr15:76627200-76627600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
10	chr15:76627200-76627600	Enhancers	HepG2	liver
11	chr15:76627200-76627800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
12	chr15:76627400-76627600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
13	chr15:76627400-76627600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
14	chr15:76627400-76627600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr15:76627400-76627600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr15:76627400-76627600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr15:76627400-76627600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
18	chr15:76627400-76627600	Bivalent Enhancer	Fetal Intestine Small	intestine
19	chr15:76627400-76627600	Bivalent Enhancer	Fetal Stomach	stomach
20	chr15:76627400-76627600	Enhancers	Hela-S3	cervix
21	chr15:76627400-76627800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
22	chr15:76627400-76627800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr15:76627400-76627800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
24	chr15:76627400-76627800	Bivalent Enhancer	Fetal Intestine Large	intestine
25	chr15:76627400-76627800	Enhancers	A549	lung
26	chr15:76627400-76627800	Bivalent Enhancer	HUVEC	blood vessel
27	chr15:76627400-76627800	Enhancers	K562	blood
28	chr15:76627400-76628000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr15:76627400-76628000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
30	chr15:76627400-76628000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
31	chr15:76627400-76628000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
32	chr15:76627400-76628000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
33	chr15:76627400-76628000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
34	chr15:76627400-76628000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr15:76627400-76628400	Active TSS	H9 Cell Line	embryonic stem cell
36	chr15:76627400-76628400	Bivalent Enhancer	Esophagus	oesophagus
37	chr15:76627400-76628600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
38	chr15:76627400-76629000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
39	chr15:76627400-76629000	Bivalent Enhancer	Fetal Muscle Leg	muscle
40	chr15:76627400-76629400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
41	chr15:76627400-76629400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr15:76627400-76629600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
43	chr15:76627400-76635400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell

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