Variant report

Variant	rs2285144
Chromosome Location	chr1:172502479-172502480
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	POLR2A	chr1:172501323-172502928	HepG2	liver:	n/a	n/a
2	POLR2A	chr1:172501058-172503467	Hela-S3	cervix:	n/a	n/a
3	PML	chr1:172501150-172502826	K562	blood:	n/a	n/a
4	MYBL2	chr1:172501329-172502621	HepG2	liver:	n/a	n/a
5	POLR2A	chr1:172500531-172503100	K562	blood:	n/a	n/a
6	CTCF	chr1:172502420-172502570	GM12869	blood:	n/a	n/a
7	CTCF	chr1:172502440-172502590	HAc	cerebellar:	n/a	n/a
8	POLR2A	chr1:172501130-172503044	PFSK-1	brain:	n/a	n/a
9	MAX	chr1:172501152-172502830	MCF-7	breast:	n/a	n/a
10	CHD2	chr1:172501176-172502803	K562	blood:	n/a	chr1:172502276-172502286
11	TEAD4	chr1:172500605-172503401	K562	blood:	n/a	n/a
12	POLR2A	chr1:172500513-172503382	K562	blood:	n/a	n/a
13	CTCF	chr1:172502460-172502610	HPAF	blood vessel:	n/a	n/a
14	TAF1	chr1:172502166-172502551	GM12892	blood:	n/a	n/a
15	TCF3	chr1:172501943-172502589	GM12878	blood:	n/a	n/a
16	TAF7	chr1:172502124-172502760	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr1:172501247-172502720	PANC-1	pancreas:	n/a	n/a
18	YY1	chr1:172501790-172502745	HCT-116	colon:	n/a	chr1:172502194-172502208
19	HDAC2	chr1:172501169-172502748	MCF-7	breast:	n/a	n/a
20	TAF1	chr1:172501150-172502719	SK-N-SH	brain:	n/a	n/a
21	MYC	chr1:172501148-172503223	NB4	blood:	n/a	n/a
22	POLR2A	chr1:172500590-172503489	GM12891	blood:	n/a	n/a
23	TAF1	chr1:172501310-172502746	ECC-1	luminal epithelium:	n/a	n/a
24	SP1	chr1:172501129-172502811	HCT-116	colon:	n/a	chr1:172502102-172502112 chr1:172502101-172502113 chr1:172502008-172502020 chr1:172502008-172502020 chr1:172502102-172502112 chr1:172502024-172502036 chr1:172502101-172502113
25	BRCA1	chr1:172501526-172502557	HepG2	liver:	n/a	n/a
26	POLR2A	chr1:172501199-172503014	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr1:172502440-172502590	AG09319	gingival:	n/a	n/a
28	POLR2A	chr1:172501849-172502764	GM12891	blood:	n/a	n/a
29	HA-E2F1	chr1:172501745-172502646	Hela-S3	cervix:	n/a	chr1:172502135-172502145 chr1:172502199-172502208 chr1:172501919-172501930 chr1:172502028-172502037 chr1:172502208-172502217 chr1:172502275-172502284
30	REST	chr1:172500928-172503498	H1-neurons	neurons:	n/a	chr1:172502117-172502130
31	POLR2A	chr1:172502115-172502483	HepG2	liver:	n/a	n/a
32	TCF7L2	chr1:172501444-172503125	HCT-116	colon:	n/a	n/a
33	MXI1	chr1:172501150-172502712	HepG2	liver:	n/a	n/a
34	WRNIP1	chr1:172501171-172503491	GM12878	blood:	n/a	n/a
35	TAF1	chr1:172501832-172502960	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr1:172502440-172502590	AG10803	skin:	n/a	n/a
37	TBP	chr1:172501135-172503225	K562	blood:	n/a	n/a
38	EP300	chr1:172501330-172502650	GM12878	blood:	n/a	chr1:172502135-172502144
39	MAZ	chr1:172501209-172503393	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr1:172501197-172503363	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr1:172501041-172503049	K562	blood:	n/a	n/a
42	ELK1	chr1:172501327-172502792	Hela-S3	cervix:	n/a	n/a
43	ELF1	chr1:172501335-172502652	GM12878	blood:	n/a	chr1:172502019-172502031 chr1:172501949-172501960
44	CTCF	chr1:172502448-172502703	GM12878	blood:	n/a	n/a
45	MAX	chr1:172501235-172502749	K562	blood:	n/a	n/a
46	CTCF	chr1:172502440-172502590	NHEK	skin:	n/a	n/a
47	CTCF	chr1:172502400-172502550	BE2_C	brain:	n/a	n/a
48	YY1	chr1:172502021-172502623	GM12891	blood:	n/a	chr1:172502194-172502208
49	GTF2F1	chr1:172501186-172503324	Hela-S3	cervix:	n/a	n/a
50	ZMIZ1	chr1:172501085-172503308	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:172411084..172422561-chr1:172496524..172504623,44	MCF-7	breast:
2	chr1:172502181..172504109-chr1:172575400..172577552,2	K562	blood:
3	chr1:172502150..172502978-chr6:43967876..43968821,2	Hela-S3	cervix:
4	chr1:172501396..172504430-chr1:172536696..172538886,3	MCF-7	breast:
5	chr1:172501784..172502594-chr12:131356402..131357220,2	Hela-S3	cervix:
6	chr1:172502053..172502709-chr2:227700502..227701168,2	NB4	blood:
7	chr1:172502229..172502743-chr17:61904999..61905540,2	Hela-S3	cervix:
8	chr1:172419256..172421468-chr1:172500783..172504604,4	K562	blood:
9	chr1:172502199..172503010-chr19:47248808..47249686,2	NB4	blood:
10	chr1:172502043..172502720-chr22:36850254..36851043,2	Hela-S3	cervix:
11	chr1:172499065..172502708-chr1:172575408..172578949,3	K562	blood:
12	chr1:172502284..172502806-chr7:112090484..112091302,2	Hela-S3	cervix:
13	chr1:172412087..172424934-chr1:172497120..172505334,59	MCF-7	breast:
14	chr1:172410326..172414934-chr1:172499314..172504781,7	K562	blood:
15	chr1:172411064..172415256-chr1:172501216..172504781,6	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PIGC-4	chr1:172500900-172502606	NONHSAT007615

Variant related genes	Relation type
SUCO	TF binding region
ENSG00000132341	Chromatin interaction
ENSG00000144468	Chromatin interaction
ENSG00000181027	Chromatin interaction
ENSG00000108592	Chromatin interaction
ENSG00000135845	Chromatin interaction
ENSG00000181577	Chromatin interaction
ENSG00000180999	Chromatin interaction
ENSG00000090372	Chromatin interaction
ENSG00000087191	Chromatin interaction
ENSG00000094975	Chromatin interaction
ENSG00000228719	Chromatin interaction
ENSG00000006652	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10157500	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10157519	0.96[ASN][1000 genomes]
rs10218613	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10489280	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10752994	0.83[ASN][1000 genomes]
rs10798040	0.97[ASN][1000 genomes]
rs10911856	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10912058	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10912080	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10912083	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10912084	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11805370	0.80[AMR][1000 genomes]
rs12087284	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12121051	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12146100	0.84[AMR][1000 genomes]
rs1894625	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2097492	0.80[AMR][1000 genomes]
rs2097494	0.83[AMR][1000 genomes]
rs2097498	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2157420	0.81[AMR][1000 genomes]
rs2227188	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2422144	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2472550	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2472552	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3752515	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3768444	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4145436	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4433434	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs5014539	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6424973	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6425007	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6656713	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6686080	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6686157	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6695152	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7525372	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7539231	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7539443	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs763108	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9425646	0.82[ASN][1000 genomes]
rs9943276	0.88[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2285144	SUCO	cis	Muscle Skeletal	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172500400-172504600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:172500600-172503200	Active TSS	Fetal Thymus	thymus
3	chr1:172500600-172503400	Active TSS	Thymus	Thymus
4	chr1:172500600-172503600	Active TSS	A549	lung
5	chr1:172500600-172503800	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr1:172500600-172504200	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr1:172500600-172504200	Active TSS	NHDF-Ad	bronchial
8	chr1:172500800-172503000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:172500800-172503200	Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr1:172500800-172503200	Active TSS	Fetal Muscle Leg	muscle
11	chr1:172500800-172503400	Active TSS	Primary T cells fromperipheralblood	blood
12	chr1:172500800-172503400	Active TSS	Aorta	Aorta
13	chr1:172500800-172503400	Active TSS	Colon Smooth Muscle	Colon
14	chr1:172500800-172503600	Active TSS	Colonic Mucosa	Colon
15	chr1:172500800-172503800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:172500800-172503800	Active TSS	Fetal Muscle Trunk	muscle
17	chr1:172500800-172504000	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr1:172500800-172504000	Active TSS	Right Ventricle	heart
19	chr1:172500800-172504200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:172500800-172504200	Active TSS	Fetal Stomach	stomach
21	chr1:172500800-172504400	Active TSS	H1 Cell Line	embryonic stem cell
22	chr1:172500800-172504400	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr1:172500800-172504400	Active TSS	HMEC	breast
24	chr1:172500800-172504600	Active TSS	Fetal Brain Female	brain
25	chr1:172500800-172504800	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr1:172501000-172502800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr1:172501000-172502800	Active TSS	Rectal Mucosa Donor 31	rectum
28	chr1:172501000-172502800	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr1:172501000-172503000	Active TSS	Brain Cingulate Gyrus	brain
30	chr1:172501000-172503000	Active TSS	Psoas Muscle	Psoas
31	chr1:172501000-172503200	Active TSS	Primary monocytes fromperipheralblood	blood
32	chr1:172501000-172503200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr1:172501000-172503200	Active TSS	Duodenum Mucosa	Duodenum
34	chr1:172501000-172503200	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr1:172501000-172503200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr1:172501000-172503200	Active TSS	Rectal Smooth Muscle	rectum
37	chr1:172501000-172503200	Active TSS	Stomach Smooth Muscle	stomach
38	chr1:172501000-172503200	Active TSS	HUVEC	blood vessel
39	chr1:172501000-172503400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:172501000-172503400	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr1:172501000-172503400	Active TSS	Stomach Mucosa	stomach
42	chr1:172501000-172503600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:172501000-172503600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr1:172501000-172503600	Active TSS	Esophagus	oesophagus
45	chr1:172501000-172503600	Active TSS	Placenta	Placenta
46	chr1:172501000-172503600	Active TSS	Left Ventricle	heart
47	chr1:172501000-172503600	Active TSS	Ovary	ovary
48	chr1:172501000-172503800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr1:172501000-172503800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:172501000-172503800	Active TSS	HSMMtube	muscle

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