Variant report

Variant	rs16957499
Chromosome Location	chr15:43513074-43513075
allele	A/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	ELF1	chr15:43512824-43513320	K562	blood:	n/a	n/a
2	MAX	chr15:43512784-43513721	K562	blood:	n/a	chr15:43513559-43513566
3	MAZ	chr15:43512778-43513638	K562	blood:	n/a	chr15:43513559-43513566
4	CEBPD	chr15:43512971-43513819	K562	blood:	n/a	n/a
5	EP300	chr15:43513072-43513942	K562	blood:	n/a	n/a
6	GATA2	chr15:43512856-43513936	K562	blood:	n/a	chr15:43513590-43513600 chr15:43513592-43513599 chr15:43513581-43513598 chr15:43513590-43513599 chr15:43513576-43513593 chr15:43513585-43513606 chr15:43513417-43513426
7	POLR2A	chr15:43513064-43513751	K562	blood:	n/a	n/a
8	HDAC2	chr15:43512793-43513680	K562	blood:	n/a	n/a
9	TEAD4	chr15:43512974-43513827	K562	blood:	n/a	n/a
10	POLR2A	chr15:43512903-43513384	K562	blood:	n/a	n/a
11	UBTF	chr15:43512891-43513220	K562	blood:	n/a	n/a
12	MYC	chr15:43512725-43513978	K562	blood:	n/a	chr15:43513559-43513566
13	GABPA	chr15:43513033-43513724	K562	blood:	n/a	n/a
14	E2F6	chr15:43512901-43513090	K562	blood:	n/a	n/a
15	CEBPD	chr15:43512894-43513840	K562	blood:	n/a	n/a
16	JUND	chr15:43512994-43513674	K562	blood:	n/a	n/a
17	PML	chr15:43512917-43513788	K562	blood:	n/a	chr15:43513355-43513363
18	POLR2A	chr15:43512164-43513965	PBDE	blood:	n/a	n/a
19	PML	chr15:43513024-43513814	K562	blood:	n/a	chr15:43513355-43513363
20	POLR2A	chr15:43513069-43513660	K562	blood:	n/a	n/a
21	GATA1	chr15:43512904-43514061	K562	blood:	n/a	chr15:43513590-43513600 chr15:43513592-43513599 chr15:43513581-43513598 chr15:43513590-43513599 chr15:43513576-43513593 chr15:43513585-43513606 chr15:43513417-43513426 chr15:43513942-43513951
22	NR2F2	chr15:43512965-43513819	K562	blood:	n/a	n/a
23	STAT5A	chr15:43513035-43513423	K562	blood:	n/a	chr15:43513295-43513303 chr15:43513155-43513162 chr15:43513320-43513332 chr15:43513322-43513334
24	POLR2A	chr15:43512996-43513671	K562	blood:	n/a	n/a
25	EGR1	chr15:43512671-43513621	K562	blood:	n/a	chr15:43513320-43513335 chr15:43513321-43513334
26	RCOR1	chr15:43512646-43513727	K562	blood:	n/a	n/a
27	TEAD4	chr15:43512750-43513868	K562	blood:	n/a	n/a
28	POLR2A	chr15:43512847-43513642	K562	blood:	n/a	n/a
29	GATA2	chr15:43512749-43513705	K562	blood:	n/a	chr15:43513590-43513600 chr15:43513592-43513599 chr15:43513581-43513598 chr15:43513590-43513599 chr15:43513576-43513593 chr15:43513585-43513606 chr15:43513417-43513426
30	TRIM28	chr15:43512981-43513770	K562	blood:	n/a	chr15:43513355-43513363
31	TBL1XR1	chr15:43513074-43513659	K562	blood:	n/a	n/a
32	NR2F2	chr15:43513056-43513719	K562	blood:	n/a	n/a
33	POLR2A	chr15:43512991-43513734	K562	blood:	n/a	n/a
34	ZMIZ1	chr15:43513040-43513691	K562	blood:	n/a	n/a
35	STAT5A	chr15:43512989-43513787	K562	blood:	n/a	chr15:43513295-43513303 chr15:43513645-43513656 chr15:43513155-43513162 chr15:43513320-43513332 chr15:43513322-43513334
36	BHLHE40	chr15:43512897-43513772	K562	blood:	n/a	n/a
37	RCOR1	chr15:43512854-43513711	K562	blood:	n/a	n/a
38	GATA2	chr15:43513053-43513753	K562	blood:	n/a	chr15:43513590-43513600 chr15:43513592-43513599 chr15:43513581-43513598 chr15:43513590-43513599 chr15:43513576-43513593 chr15:43513585-43513606 chr15:43513417-43513426
39	GATA1	chr15:43512325-43514077	PBDE	blood:	n/a	chr15:43513590-43513600 chr15:43513592-43513599 chr15:43513581-43513598 chr15:43513590-43513599 chr15:43513576-43513593 chr15:43513585-43513606 chr15:43513417-43513426 chr15:43513942-43513951
40	TAL1	chr15:43512671-43513943	K562	blood:	n/a	chr15:43513581-43513599

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:43513055-43513105	HRCEpiC	kidney:	n/a
2	chr15:43513055-43513105	NHDF-neo	bronchial:	n/a
3	chr15:43513055-43513105	ProgFib	skin:	n/a
4	chr15:43513055-43513105	AG04450	lung:	fetal
5	chr15:43513055-43513105	HUVEC	blood vessel:	n/a
6	chr15:43513055-43513105	HEK293	kidney:	embryo
7	chr15:43513055-43513105	ovcar-3	ovarian:	n/a
8	chr15:43513055-43513105	HRPEpiC	eye:	n/a
9	chr15:43513055-43513105	SK-N-MC	brain:	n/a
10	chr15:43513055-43513105	Caco-2	colon:	n/a
11	chr15:43513055-43513105	SK-N-SH	brain:	n/a
12	chr15:43513055-43513105	AG10803	skin:	n/a
13	chr15:43513055-43513105	ECC-1	luminal epithelium:	n/a
14	chr15:43513055-43513105	MCF10A-Er-Src	breast:	n/a
15	chr15:43513055-43513105	IMR90	lung:	fetal
16	chr15:43513055-43513105	GM12891	blood:	n/a
17	chr15:43513055-43513105	GM12892	blood:	n/a
18	chr15:43513055-43513105	Jurkat	blood:	n/a
19	chr15:43513055-43513105	U87	brain:	n/a
20	chr15:43513055-43513105	T-47D	breast:	n/a
21	chr15:43513055-43513105	GM12878	blood:	n/a
22	chr15:43513055-43513105	NT2-D1	testis:	n/a
23	chr15:43513055-43513105	HIPEpiC	eye:	n/a
24	chr15:43513055-43513105	PFSK-1	brain:	n/a
25	chr15:43513055-43513105	PANC-1	pancreas:	n/a
26	chr15:43513055-43513105	Hela-S3	cervix:	n/a
27	chr15:43513055-43513105	SK-N-SH_RA	brain:	n/a
28	chr15:43513055-43513105	AoSMC	blood vessel:	n/a
29	chr15:43513055-43513105	HRE	kidney:	n/a
30	chr15:43513055-43513105	HPAEpiC	pulmonary alveolar:	n/a
31	chr15:43513055-43513105	GM19239	blood:	n/a
32	chr15:43513055-43513105	AG04449	skin:	fetal
33	chr15:43513055-43513105	H1-hESC	embryonic stem cell:	embryo
34	chr15:43513055-43513105	LNCaP	prostate:	n/a
35	chr15:43513055-43513105	NH-A	brain:	n/a
36	chr15:43513055-43513105	CMK	blood:	n/a
37	chr15:43513055-43513105	HepG2	liver:	n/a
38	chr15:43513055-43513105	HMEC	breast:	n/a
39	chr15:43513055-43513105	SAEC	small airway:	n/a
40	chr15:43513055-43513105	HCPEpiC	choroid plexus:	n/a
41	chr15:43513055-43513105	MCF-7	breast:	n/a
42	chr15:43513055-43513105	AG09319	gingival:	n/a
43	chr15:43513055-43513105	NHBE	bronchial:	n/a
44	chr15:43513055-43513105	PrEC	prostate:	n/a
45	chr15:43513055-43513105	BJ	skin:	n/a
46	chr15:43513055-43513105	HAEpiC	amniotic membrane:	n/a
47	chr15:43513055-43513105	GM06990	blood:	n/a
48	chr15:43513055-43513105	HL-60	blood:	n/a
49	chr15:43513055-43513105	K562	blood:	n/a
50	chr15:43513055-43513105	BE2_C	brain:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43512947..43514821-chr15:43621121..43624112,2	K562	blood:

Variant related genes	Relation type
EPB42	TF binding region
EPB42	CpG island
ENSG00000168806	Chromatin interaction
ENSG00000168803	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10048057	1.00[EUR][1000 genomes]
rs10083725	1.00[EUR][1000 genomes]
rs10152237	1.00[EUR][1000 genomes]
rs10220812	1.00[EUR][1000 genomes]
rs1042168	1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10438267	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10467909	1.00[EUR][1000 genomes]
rs1078243	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11504654	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11504655	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12324094	1.00[EUR][1000 genomes]
rs12324436	1.00[EUR][1000 genomes]
rs12324573	1.00[EUR][1000 genomes]
rs1474199	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1520519	1.00[EUR][1000 genomes]
rs16957409	1.00[EUR][1000 genomes]
rs16957462	1.00[EUR][1000 genomes]
rs16957502	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16957507	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16957739	1.00[EUR][1000 genomes]
rs1863601	1.00[EUR][1000 genomes]
rs2004809	1.00[EUR][1000 genomes]
rs2271964	1.00[EUR][1000 genomes]
rs2271965	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28444219	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28539201	1.00[EUR][1000 genomes]
rs3177296	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34222269	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4419035	1.00[EUR][1000 genomes]
rs505276	1.00[EUR][1000 genomes]
rs58059509	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59401274	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59900401	1.00[EUR][1000 genomes]
rs60435696	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60481556	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61268760	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61343376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61711558	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7162620	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7162971	0.92[YRI][hapmap];1.00[EUR][1000 genomes]
rs7171797	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7176183	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7182685	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7183024	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8030850	1.00[JPT][hapmap];0.84[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8035881	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8039342	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8040769	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8040960	1.00[EUR][1000 genomes]
rs8041312	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9806236	1.00[EUR][1000 genomes]
rs9806629	1.00[EUR][1000 genomes]
rs9972314	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9972367	1.00[EUR][1000 genomes]
rs999025	1.00[EUR][1000 genomes]

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	nsv1044522	chr15:43115348-43658417	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv569241	chr15:43201109-43522922	Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1044508	chr15:43270637-43658417	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43489800-43513200	Weak transcription	Right Atrium	heart
2	chr15:43506400-43518600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:43511800-43526600	Weak transcription	Esophagus	oesophagus
4	chr15:43512400-43513400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr15:43512400-43514000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr15:43512400-43514000	Flanking Active TSS	K562	blood
7	chr15:43512600-43517800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr15:43512800-43513200	Enhancers	Fetal Heart	heart
9	chr15:43513000-43513200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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