Variant report

Variant	rs57793626
Chromosome Location	chr1:150254510-150254511
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	POLR2A	chr1:150254204-150254699	A549	lung:	n/a	n/a
2	STAT5A	chr1:150254227-150255040	GM12878	blood:	n/a	n/a
3	CTCF	chr1:150253541-150254512	MCF-7	breast:	n/a	chr1:150253820-150253838 chr1:150254249-150254262 chr1:150253822-150253835 chr1:150253821-150253837 chr1:150253815-150253836
4	TEAD4	chr1:150254479-150254977	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr1:150253990-150255512	ECC-1	luminal epithelium:	n/a	chr1:150254466-150254475 chr1:150255121-150255132 chr1:150254829-150254848 chr1:150254467-150254474 chr1:150254834-150254843 chr1:150255120-150255133 chr1:150255122-150255131 chr1:150254468-150254484 chr1:150254836-150254843
6	USF1	chr1:150254237-150255187	A549	lung:	n/a	chr1:150254892-150254901 chr1:150254891-150254900 chr1:150254832-150254843 chr1:150254892-150254901
7	POLR2A	chr1:150253538-150255531	H1-hESC	embryonic stem cell:	n/a	n/a
8	E2F6	chr1:150253599-150255218	A549	lung:	n/a	chr1:150254751-150254760
9	USF1	chr1:150254468-150255069	A549	lung:	n/a	chr1:150254892-150254901 chr1:150254891-150254900 chr1:150254832-150254843 chr1:150254892-150254901
10	GATA3	chr1:150253646-150254751	T-47D	breast:	n/a	chr1:150253791-150253800
11	POLR2A	chr1:150254483-150254586	A549	lung:	n/a	n/a
12	MXI1	chr1:150253414-150255748	IMR90	lung:	n/a	n/a
13	BHLHE40	chr1:150254235-150255339	A549	lung:	n/a	chr1:150254892-150254901 chr1:150254891-150254900 chr1:150254892-150254901
14	CREB1	chr1:150254180-150255378	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr1:150254140-150255558	H1-neurons	neurons:	n/a	n/a
16	E2F6	chr1:150254136-150255041	A549	lung:	n/a	chr1:150254751-150254760
17	SP1	chr1:150254287-150255531	H1-hESC	embryonic stem cell:	n/a	chr1:150254925-150254939 chr1:150254928-150254940 chr1:150254947-150254958 chr1:150254929-150254938 chr1:150254930-150254939 chr1:150254853-150254874 chr1:150254928-150254940 chr1:150254788-150254795 chr1:150254919-150254933 chr1:150254930-150254939 chr1:150254929-150254939 chr1:150254929-150254939 chr1:150254928-150254939 chr1:150255181-150255195
18	TAF7	chr1:150254222-150254718	H1-hESC	embryonic stem cell:	n/a	n/a
19	NR3C1	chr1:150253986-150254531	A549	lung:	n/a	chr1:150254259-150254285 chr1:150254265-150254279 chr1:150254259-150254285 chr1:150254259-150254285 chr1:150254264-150254280 chr1:150254265-150254279 chr1:150254259-150254285 chr1:150254264-150254280 chr1:150254264-150254280 chr1:150254259-150254285 chr1:150254264-150254280
20	MAX	chr1:150253731-150255474	H1-hESC	embryonic stem cell:	n/a	chr1:150254466-150254475 chr1:150255121-150255132 chr1:150254829-150254848 chr1:150254467-150254474 chr1:150254834-150254843 chr1:150255120-150255133 chr1:150255122-150255131 chr1:150254468-150254484 chr1:150254836-150254843
21	HA-E2F1	chr1:150253898-150254750	MCF-7	breast:	n/a	n/a
22	POLR2A	chr1:150253635-150255360	U87	brain:	n/a	n/a
23	YY1	chr1:150254199-150254945	H1-hESC	embryonic stem cell:	n/a	n/a
24	JUND	chr1:150253740-150255021	H1-hESC	embryonic stem cell:	n/a	n/a
25	RAD21	chr1:150253516-150254850	MCF-7	breast:	n/a	chr1:150253818-150253837 chr1:150253820-150253832
26	TAF7	chr1:150253711-150254710	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr1:150254100-150254695	PANC-1	pancreas:	n/a	n/a
28	BCL3	chr1:150254328-150254877	A549	lung:	n/a	n/a
29	SIN3AK20	chr1:150254159-150254735	H1-hESC	embryonic stem cell:	n/a	n/a
30	MYC	chr1:150253592-150255167	MCF10A-Er-Src	breast:	n/a	chr1:150254466-150254475 chr1:150255121-150255132 chr1:150254829-150254848 chr1:150254467-150254474 chr1:150254834-150254843 chr1:150255120-150255133 chr1:150255122-150255131 chr1:150254468-150254484 chr1:150254836-150254843
31	MAZ	chr1:150253610-150255847	IMR90	lung:	n/a	chr1:150254466-150254475 chr1:150255121-150255132 chr1:150254829-150254848 chr1:150254467-150254474 chr1:150254834-150254843 chr1:150255120-150255133 chr1:150255122-150255131 chr1:150254468-150254484 chr1:150254836-150254843
32	REST	chr1:150254275-150254620	A549	lung:	n/a	n/a
33	USF1	chr1:150254199-150255342	H1-hESC	embryonic stem cell:	n/a	chr1:150254892-150254901 chr1:150254891-150254900 chr1:150254832-150254843 chr1:150254892-150254901
34	POLR2A	chr1:150254130-150254780	Gliobla	brain:	n/a	n/a
35	USF1	chr1:150254144-150255443	ECC-1	luminal epithelium:	n/a	chr1:150254892-150254901 chr1:150254891-150254900 chr1:150254832-150254843 chr1:150254892-150254901
36	MAX	chr1:150254137-150255194	SK-N-SH	brain:	n/a	chr1:150254466-150254475 chr1:150255121-150255132 chr1:150254829-150254848 chr1:150254467-150254474 chr1:150254834-150254843 chr1:150255120-150255133 chr1:150255122-150255131 chr1:150254468-150254484 chr1:150254836-150254843
37	POLR2A	chr1:150253579-150255360	U87	brain:	n/a	n/a
38	POLR2A	chr1:150254103-150255411	MCF-7	breast:	n/a	n/a
39	USF2	chr1:150254240-150255277	H1-hESC	embryonic stem cell:	n/a	chr1:150254892-150254901 chr1:150254891-150254900 chr1:150254892-150254901
40	USF1	chr1:150254120-150255131	A549	lung:	n/a	chr1:150254892-150254901 chr1:150254891-150254900 chr1:150254832-150254843 chr1:150254892-150254901
41	USF1	chr1:150254161-150255203	A549	lung:	n/a	chr1:150254892-150254901 chr1:150254891-150254900 chr1:150254832-150254843 chr1:150254892-150254901
42	NR3C1	chr1:150254083-150254580	A549	lung:	n/a	chr1:150254259-150254285 chr1:150254265-150254279 chr1:150254259-150254285 chr1:150254259-150254285 chr1:150254264-150254280 chr1:150254265-150254279 chr1:150254259-150254285 chr1:150254264-150254280 chr1:150254264-150254280 chr1:150254259-150254285 chr1:150254264-150254280
43	CTCF	chr1:150253343-150254522	SK-N-SH	brain:	n/a	chr1:150253820-150253838 chr1:150254249-150254262 chr1:150253465-150253473 chr1:150253822-150253835 chr1:150253821-150253837 chr1:150253815-150253836
44	CTCF	chr1:150254480-150254630	WERI-Rb-1	eye:	n/a	n/a
45	MAX	chr1:150254161-150255090	GM12878	blood:	n/a	chr1:150254466-150254475 chr1:150254829-150254848 chr1:150254467-150254474 chr1:150254834-150254843 chr1:150254468-150254484 chr1:150254836-150254843
46	CHD2	chr1:150253820-150255404	H1-hESC	embryonic stem cell:	n/a	n/a
47	RFX5	chr1:150254323-150254990	H1-hESC	embryonic stem cell:	n/a	chr1:150254855-150254864
48	TBP	chr1:150253705-150255232	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr1:150253735-150254790	U87	brain:	n/a	n/a
50	MAX	chr1:150253764-150255180	A549	lung:	n/a	chr1:150254466-150254475 chr1:150255121-150255132 chr1:150254829-150254848 chr1:150254467-150254474 chr1:150254834-150254843 chr1:150255120-150255133 chr1:150255122-150255131 chr1:150254468-150254484 chr1:150254836-150254843

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:150254477-150254527	ovcar-3	ovarian:	n/a
2	chr1:150254477-150254527	HUVEC	blood vessel:	n/a
3	chr1:150254477-150254527	HPAEpiC	pulmonary alveolar:	n/a
4	chr1:150254477-150254527	AG04449	skin:	fetal
5	chr1:150254477-150254527	PrEC	prostate:	n/a
6	chr1:150254477-150254527	Jurkat	blood:	n/a
7	chr1:150254477-150254527	MCF-7	breast:	n/a
8	chr1:150254477-150254527	AG10803	skin:	n/a
9	chr1:150254477-150254527	NHBE	bronchial:	n/a
10	chr1:150254477-150254527	HEK293	kidney:	embryo
11	chr1:150254477-150254527	HNPCEpiC	eye:	n/a
12	chr1:150254477-150254527	NT2-D1	testis:	n/a
13	chr1:150254477-150254527	SK-N-SH_RA	brain:	n/a
14	chr1:150254477-150254527	AG04450	lung:	fetal
15	chr1:150254477-150254527	H1-hESC	embryonic stem cell:	embryo
16	chr1:150254477-150254527	RPTEC	kidney:	n/a
17	chr1:150254477-150254527	K562	blood:	n/a
18	chr1:150254477-150254527	BE2_C	brain:	n/a
19	chr1:150254477-150254527	GM12891	blood:	n/a
20	chr1:150254477-150254527	HCT-116	colon:	n/a
21	chr1:150254477-150254527	PANC-1	pancreas:	n/a
22	chr1:150254477-150254527	HepG2	liver:	n/a
23	chr1:150254477-150254527	GM06990	blood:	n/a
24	chr1:150254477-150254527	NHDF-neo	bronchial:	n/a
25	chr1:150254477-150254527	HIPEpiC	eye:	n/a
26	chr1:150254477-150254527	HRE	kidney:	n/a
27	chr1:150254477-150254527	HCPEpiC	choroid plexus:	n/a
28	chr1:150254477-150254527	IMR90	lung:	fetal
29	chr1:150254477-150254527	SAEC	small airway:	n/a
30	chr1:150254477-150254527	BJ	skin:	n/a
31	chr1:150254477-150254527	SK-N-MC	brain:	n/a
32	chr1:150254477-150254527	ECC-1	luminal epithelium:	n/a
33	chr1:150254477-150254527	SK-N-SH	brain:	n/a
34	chr1:150254477-150254527	AoSMC	blood vessel:	n/a
35	chr1:150254477-150254527	LNCaP	prostate:	n/a
36	chr1:150254477-150254527	A549	lung:	n/a
37	chr1:150254477-150254527	AG09319	gingival:	n/a
38	chr1:150254477-150254527	HRCEpiC	kidney:	n/a
39	chr1:150254477-150254527	HL-60	blood:	n/a
40	chr1:150254477-150254527	T-47D	breast:	n/a
41	chr1:150254477-150254527	PFSK-1	brain:	n/a
42	chr1:150254477-150254527	GM12878	blood:	n/a
43	chr1:150254477-150254527	GM19239	blood:	n/a
44	chr1:150254477-150254527	MCF10A-Er-Src	breast:	n/a
45	chr1:150254477-150254527	NB4	blood:	n/a
46	chr1:150254477-150254527	Hepatocyte	liver:	n/a
47	chr1:150254477-150254527	HEEpiC	esophagus:	n/a
48	chr1:150254477-150254527	SKMC	muscle:	n/a
49	chr1:150254477-150254527	CMK	blood:	n/a
50	chr1:150254477-150254527	U87	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:150226594..150229990-chr1:150253466..150255722,4	K562	blood:
2	chr1:150207034..150209867-chr1:150251521..150254901,4	MCF-7	breast:
3	chr1:150252708..150255493-chr1:150334761..150336728,2	K562	blood:
4	chr1:144532574..144534383-chr1:150253333..150256090,2	K562	blood:
5	chr1:150227212..150229263-chr1:150253177..150254704,26	MCF-7	breast:
6	chr1:150254416..150258326-chr1:150293142..150296194,3	K562	blood:
7	chr1:150252847..150256677-chr1:150333609..150339009,8	MCF-7	breast:
8	chr1:149856618..149859874-chr1:150252392..150257192,4	MCF-7	breast:
9	chr1:150206509..150210612-chr1:150251950..150254898,4	K562	blood:
10	chr1:149982260..149984112-chr1:150253669..150255654,2	MCF-7	breast:
11	chr1:150252171..150257673-chr1:150291650..150295636,15	MCF-7	breast:
12	chr1:150246450..150248779-chr1:150251520..150254627,3	K562	blood:
13	chr1:150254103..150255766-chr1:150487973..150490880,2	MCF-7	breast:
14	chr1:150226746..150229990-chr1:150252728..150255652,4	K562	blood:
15	chr1:150254313..150256354-chr20:49126871..49128385,2	MCF-7	breast:
16	chr1:150253619..150256471-chr1:150290811..150295516,7	MCF-7	breast:
17	chr1:150205879..150210456-chr1:150251557..150256195,8	MCF-7	breast:
18	chr1:150232148..150235043-chr1:150254020..150257209,3	K562	blood:

Variant related genes	Relation type
C1orf51	TF binding region
C1orf51	CpG island
ENSG00000143401	Chromatin interaction
ENSG00000163113	Chromatin interaction
ENSG00000271845	Chromatin interaction
ENSG00000228126	Chromatin interaction
ENSG00000196396	Chromatin interaction
ENSG00000117360	Chromatin interaction
ENSG00000222222	Chromatin interaction
ENSG00000238526	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000201699	Chromatin interaction
ENSG00000118298	Chromatin interaction
ENSG00000163125	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56991218	1.00[AMR][1000 genomes]
rs61296808	0.94[AFR][1000 genomes]
rs61682354	0.89[AFR][1000 genomes]
rs74124402	0.94[AFR][1000 genomes]
rs74124607	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74124619	1.00[AMR][1000 genomes]
rs74126627	0.94[AFR][1000 genomes]
rs74127650	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529719	chr1:150006344-150311095	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
3	nsv1009508	chr1:150211112-150270830	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv535154	chr1:150214907-150265508	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1011223	chr1:150229205-150279380	Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150252600-150255600	Flanking Active TSS	Liver	Liver
2	chr1:150253200-150254600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:150253400-150254600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:150253400-150254600	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr1:150253400-150254600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr1:150253400-150254800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
7	chr1:150253400-150254800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
8	chr1:150253400-150255200	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr1:150253400-150255400	Flanking Active TSS	Duodenum Mucosa	Duodenum
10	chr1:150253400-150255600	Active TSS	Colon Smooth Muscle	Colon
11	chr1:150253400-150256000	Active TSS	Right Atrium	heart
12	chr1:150253400-150256000	Flanking Active TSS	HMEC	breast
13	chr1:150253600-150254600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:150253600-150254600	Flanking Active TSS	NH-A	brain
15	chr1:150253600-150254600	Flanking Active TSS	NHEK	skin
16	chr1:150253600-150254600	Flanking Active TSS	Osteobl	bone
17	chr1:150253600-150254800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr1:150253600-150254800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr1:150253600-150254800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr1:150253600-150254800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
21	chr1:150253600-150255000	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr1:150253600-150255000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:150253600-150255000	Active TSS	A549	lung
24	chr1:150253600-150255200	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr1:150253600-150255200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:150253600-150255200	Active TSS	Brain Cingulate Gyrus	brain
27	chr1:150253600-150255200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:150253600-150255400	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr1:150253600-150255400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr1:150253600-150255600	Active TSS	Brain Anterior Caudate	brain
31	chr1:150253600-150255600	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr1:150253600-150255600	Active TSS	NHDF-Ad	bronchial
33	chr1:150253600-150255800	Active TSS	Brain Angular Gyrus	brain
34	chr1:150253600-150256200	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr1:150253600-150256200	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr1:150253800-150254600	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
37	chr1:150253800-150254600	Flanking Active TSS	Primary B cells from peripheral blood	blood
38	chr1:150253800-150254600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr1:150253800-150254600	Flanking Active TSS	Colonic Mucosa	Colon
40	chr1:150253800-150254600	Flanking Active TSS	HSMM	muscle
41	chr1:150253800-150254800	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr1:150253800-150254800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:150253800-150254800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr1:150253800-150254800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr1:150253800-150254800	Flanking Active TSS	Fetal Brain Male	brain
46	chr1:150253800-150254800	Flanking Active TSS	Fetal Lung	lung
47	chr1:150253800-150254800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
48	chr1:150253800-150254800	Flanking Active TSS	Stomach Mucosa	stomach
49	chr1:150253800-150254800	Flanking Active TSS	GM12878-XiMat	blood
50	chr1:150253800-150254800	Flanking Active TSS	HUVEC	blood vessel

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