Variant report

Variant	rs3027013
Chromosome Location	chr1:159174209-159174210
allele	C/T
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	MAX	chr1:159173884-159174430	K562	blood:	n/a	chr1:159174159-159174166 chr1:159174156-159174165 chr1:159174157-159174167
2	GATA1	chr1:159173489-159175322	PBDE	blood:	n/a	chr1:159174313-159174323 chr1:159174315-159174332 chr1:159174671-159174692 chr1:159174314-159174323 chr1:159174679-159174696 chr1:159174678-159174685 chr1:159174314-159174321 chr1:159174678-159174685 chr1:159174312-159174325 chr1:159174678-159174685
3	BHLHE40	chr1:159173666-159174771	K562	blood:	n/a	n/a
4	MYC	chr1:159173959-159174836	K562	blood:	n/a	chr1:159174159-159174166 chr1:159174156-159174165 chr1:159174157-159174167
5	JUND	chr1:159173467-159174386	K562	blood:	n/a	n/a
6	POLR2A	chr1:159173266-159177005	PBDE	blood:	n/a	n/a
7	NR3C1	chr1:159173945-159174255	A549	lung:	n/a	n/a
8	EGR1	chr1:159173885-159174238	K562	blood:	n/a	chr1:159174155-159174164 chr1:159174153-159174167 chr1:159174155-159174165 chr1:159174154-159174167 chr1:159174155-159174165
9	UBTF	chr1:159174103-159174861	K562	blood:	n/a	n/a
10	TBL1XR1	chr1:159173979-159174279	K562	blood:	n/a	n/a
11	HCFC1	chr1:159174129-159174228	K562	blood:	n/a	n/a
12	MAX	chr1:159173989-159174230	K562	blood:	n/a	chr1:159174159-159174166 chr1:159174156-159174165 chr1:159174157-159174167
13	RCOR1	chr1:159174038-159174353	K562	blood:	n/a	n/a
14	TAL1	chr1:159173931-159174905	K562	blood:	n/a	chr1:159174677-159174685 chr1:159174678-159174696 chr1:159174314-159174332
15	NR3C1	chr1:159173927-159174327	A549	lung:	n/a	n/a
16	TBL1XR1	chr1:159174047-159174853	K562	blood:	n/a	n/a
17	MAZ	chr1:159173473-159175086	K562	blood:	n/a	chr1:159174159-159174166 chr1:159174156-159174165 chr1:159173637-159173647 chr1:159174157-159174167
18	UBTF	chr1:159173961-159174308	K562	blood:	n/a	n/a
19	EP300	chr1:159173530-159174850	K562	blood:	n/a	chr1:159173953-159173963 chr1:159173591-159173605
20	MAX	chr1:159173529-159174843	K562	blood:	n/a	chr1:159174159-159174166 chr1:159174156-159174165 chr1:159173637-159173647 chr1:159174157-159174167
21	RCOR1	chr1:159173996-159174844	K562	blood:	n/a	n/a
22	EGR1	chr1:159174057-159174216	K562	blood:	n/a	chr1:159174155-159174164 chr1:159174153-159174167 chr1:159174155-159174165 chr1:159174154-159174167 chr1:159174155-159174165
23	MYC	chr1:159173970-159174404	K562	blood:	n/a	chr1:159174159-159174166 chr1:159174156-159174165 chr1:159174157-159174167

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:159174162-159174212	HNPCEpiC	eye:	n/a
2	chr1:159174162-159174212	HCF	heart:	n/a
3	chr1:159174162-159174212	AoSMC	blood vessel:	n/a
4	chr1:159174162-159174212	HEK293	kidney:	embryo
5	chr1:159174162-159174212	GM12891	blood:	n/a
6	chr1:159174162-159174212	SKMC	muscle:	n/a
7	chr1:159174162-159174212	HL-60	blood:	n/a
8	chr1:159174162-159174212	CMK	blood:	n/a
9	chr1:159174162-159174212	GM12878	blood:	n/a
10	chr1:159174162-159174212	BJ	skin:	n/a
11	chr1:159174162-159174212	SK-N-SH_RA	brain:	n/a
12	chr1:159174162-159174212	HPAEpiC	pulmonary alveolar:	n/a
13	chr1:159174162-159174212	HEEpiC	esophagus:	n/a
14	chr1:159174162-159174212	AG04449	skin:	fetal
15	chr1:159174162-159174212	GM19239	blood:	n/a
16	chr1:159174162-159174212	HRCEpiC	kidney:	n/a
17	chr1:159174162-159174212	LNCaP	prostate:	n/a
18	chr1:159174162-159174212	HCM	heart:	n/a
19	chr1:159174162-159174212	HepG2	liver:	n/a
20	chr1:159174162-159174212	HCPEpiC	choroid plexus:	n/a
21	chr1:159174162-159174212	MCF-7	breast:	n/a
22	chr1:159174162-159174212	PFSK-1	brain:	n/a
23	chr1:159174162-159174212	Caco-2	colon:	n/a
24	chr1:159174162-159174212	AG10803	skin:	n/a
25	chr1:159174162-159174212	AG09309	skin:	n/a
26	chr1:159174162-159174212	GM06990	blood:	n/a
27	chr1:159174162-159174212	ECC-1	luminal epithelium:	n/a
28	chr1:159174162-159174212	U87	brain:	n/a
29	chr1:159174162-159174212	MCF10A-Er-Src	breast:	n/a
30	chr1:159174162-159174212	HRPEpiC	eye:	n/a
31	chr1:159174162-159174212	Hepatocyte	liver:	n/a
32	chr1:159174162-159174212	GM12892	blood:	n/a
33	chr1:159174162-159174212	ProgFib	skin:	n/a
34	chr1:159174162-159174212	NH-A	brain:	n/a
35	chr1:159174162-159174212	RPTEC	kidney:	n/a
36	chr1:159174162-159174212	Hela-S3	cervix:	n/a
37	chr1:159174162-159174212	BE2_C	brain:	n/a
38	chr1:159174162-159174212	ovcar-3	ovarian:	n/a
39	chr1:159174162-159174212	IMR90	lung:	fetal
40	chr1:159174162-159174212	HMEC	breast:	n/a
41	chr1:159174162-159174212	NHBE	bronchial:	n/a
42	chr1:159174162-159174212	HUVEC	blood vessel:	n/a
43	chr1:159174162-159174212	PrEC	prostate:	n/a
44	chr1:159174162-159174212	AG04450	lung:	fetal
45	chr1:159174162-159174212	AG09319	gingival:	n/a
46	chr1:159174162-159174212	NHDF-neo	bronchial:	n/a
47	chr1:159174162-159174212	HRE	kidney:	n/a
48	chr1:159174162-159174212	H1-hESC	embryonic stem cell:	embryo
49	chr1:159174162-159174212	HCT-116	colon:	n/a
50	chr1:159174162-159174212	A549	lung:	n/a

Variant related genes	Relation type
ENSG00000225670	TF binding region
DARC	TF binding region
ENSG00000225670	CpG island
DARC	CpG island

rs_ID	r²[population]
rs3027009	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3027031	0.94[EUR][1000 genomes]
rs41313908	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61828181	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159158800-159177600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:159158800-159177800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:159158800-159188800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:159168000-159177600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr1:159168400-159177600	Weak transcription	Brain Angular Gyrus	brain
6	chr1:159170400-159177800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:159170800-159174400	Enhancers	Lung	lung
8	chr1:159170800-159177600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:159171400-159174800	Weak transcription	Esophagus	oesophagus
10	chr1:159171800-159174800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr1:159171800-159176000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:159172200-159174400	Enhancers	Spleen	Spleen
13	chr1:159172200-159175800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:159172600-159177200	Weak transcription	Brain Germinal Matrix	brain
15	chr1:159173000-159176400	Enhancers	GM12878-XiMat	blood
16	chr1:159173200-159174600	Weak transcription	Fetal Brain Female	brain
17	chr1:159173400-159174800	Flanking Active TSS	K562	blood
18	chr1:159173400-159176200	Enhancers	Placenta	Placenta
19	chr1:159173600-159175800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:159173800-159175000	Enhancers	Fetal Brain Male	brain
21	chr1:159174000-159174600	Enhancers	Primary hematopoietic stem cells	blood
22	chr1:159174000-159175200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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