Variant report

Variant	rs10404395
Chromosome Location	chr19:51506096-51506097
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr19:51506016-51506105	H1-hESC	embryonic stem cell:	n/a	n/a
2	USF1	chr19:51505827-51506329	ECC-1	luminal epithelium:	n/a	n/a
3	JUN	chr19:51505735-51506306	K562	blood:	n/a	n/a
4	CREB1	chr19:51505675-51506406	H1-hESC	embryonic stem cell:	n/a	n/a
5	USF2	chr19:51505852-51506231	K562	blood:	n/a	n/a
6	NR2F2	chr19:51505743-51506390	K562	blood:	n/a	n/a
7	JUND	chr19:51505711-51506311	H1-hESC	embryonic stem cell:	n/a	n/a
8	CREB1	chr19:51505827-51506320	A549	lung:	n/a	n/a
9	USF1	chr19:51505677-51506401	K562	blood:	n/a	n/a
10	TAL1	chr19:51506074-51506162	K562	blood:	n/a	n/a
11	ATF3	chr19:51505869-51506247	K562	blood:	n/a	n/a
12	JUND	chr19:51505992-51506192	HepG2	liver:	n/a	n/a
13	SPI1	chr19:51505868-51506135	K562	blood:	n/a	n/a
14	EGR1	chr19:51505334-51506467	HCT-116	colon:	n/a	chr19:51505717-51505724 chr19:51505717-51505730 chr19:51505716-51505731
15	ELF1	chr19:51505778-51506237	K562	blood:	n/a	n/a
16	RFX5	chr19:51505977-51506212	K562	blood:	n/a	n/a
17	USF1	chr19:51505828-51506294	H1-hESC	embryonic stem cell:	n/a	n/a
18	TEAD4	chr19:51505605-51506309	K562	blood:	n/a	n/a
19	ELF1	chr19:51505841-51506235	K562	blood:	n/a	n/a
20	IRF1	chr19:51505790-51506367	K562	blood:	n/a	n/a
21	MYC	chr19:51505722-51506268	K562	blood:	n/a	n/a
22	TBL1XR1	chr19:51505774-51506239	K562	blood:	n/a	n/a
23	CTCF	chr19:51505965-51506204	K562	blood:	n/a	n/a
24	MAZ	chr19:51505320-51506299	K562	blood:	n/a	chr19:51505421-51505431
25	CEBPB	chr19:51505625-51506268	K562	blood:	n/a	n/a
26	MAX	chr19:51505631-51506180	A549	lung:	n/a	n/a
27	POLR2A	chr19:51504104-51506325	HCT-116	colon:	n/a	n/a
28	CREB1	chr19:51505718-51506458	K562	blood:	n/a	n/a
29	YY1	chr19:51505907-51506278	K562	blood:	n/a	n/a
30	CREB1	chr19:51505739-51506327	H1-hESC	embryonic stem cell:	n/a	n/a
31	JUND	chr19:51505676-51506360	K562	blood:	n/a	n/a
32	SP1	chr19:51505750-51506343	A549	lung:	n/a	n/a
33	TBL1XR1	chr19:51506088-51506363	K562	blood:	n/a	n/a
34	EP300	chr19:51505758-51506258	K562	blood:	n/a	n/a
35	USF1	chr19:51505769-51506253	K562	blood:	n/a	n/a
36	USF2	chr19:51505811-51506260	H1-hESC	embryonic stem cell:	n/a	n/a
37	YY1	chr19:51505981-51506204	K562	blood:	n/a	n/a
38	JUN	chr19:51505471-51506743	K562	blood:	n/a	n/a
39	ZBTB7A	chr19:51505028-51506314	K562	blood:	n/a	n/a
40	ZC3H11A	chr19:51505957-51506145	K562	blood:	n/a	n/a
41	ATF1	chr19:51505893-51506332	K562	blood:	n/a	n/a
42	ATF2	chr19:51505874-51506266	H1-hESC	embryonic stem cell:	n/a	n/a
43	YY1	chr19:51505793-51506227	HCT-116	colon:	n/a	n/a
44	SPI1	chr19:51505857-51506145	K562	blood:	n/a	n/a
45	BHLHE40	chr19:51505735-51506365	K562	blood:	n/a	n/a
46	MAX	chr19:51505499-51506405	K562	blood:	n/a	n/a
47	TBP	chr19:51505718-51506269	K562	blood:	n/a	n/a
48	MAX	chr19:51505768-51506312	K562	blood:	n/a	n/a
49	HMGN3	chr19:51505664-51506453	K562	blood:	n/a	n/a
50	JUN	chr19:51505724-51506300	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
KLK8	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10408459	1.00[ASN][1000 genomes]
rs10409072	1.00[ASN][1000 genomes]
rs10409565	1.00[ASN][1000 genomes]
rs10410942	1.00[ASN][1000 genomes]
rs10415816	1.00[ASN][1000 genomes]
rs28528952	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34542531	1.00[ASN][1000 genomes]
rs56707394	1.00[ASN][1000 genomes]

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	nsv1058277	chr19:51488544-51509847	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv912291	chr19:51505725-51537682	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51503600-51506400	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr19:51503800-51506200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr19:51504200-51506400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr19:51504800-51506400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr19:51505200-51506200	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr19:51505400-51506400	Flanking Active TSS	K562	blood
7	chr19:51505800-51506200	Bivalent Enhancer	Placenta	Placenta
8	chr19:51505800-51506200	Bivalent Enhancer	Fetal Stomach	stomach
9	chr19:51505800-51506400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr19:51506000-51506200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr19:51506000-51506200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
12	chr19:51506000-51506200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr19:51506000-51506200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
14	chr19:51506000-51506200	Bivalent/Poised TSS	A549	lung
15	chr19:51506000-51506400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr19:51506000-51506400	Enhancers	HMEC	breast
17	chr19:51506000-51506400	Enhancers	NHEK	skin
18	chr19:51506000-51507200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr19:51506000-51509200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr19:51506000-51509600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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