Variant report

Variant	rs557942433
Chromosome Location	chr1:161008549-161008550
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	CTCF	chr1:161008457-161008642	GM19240	blood:	n/a	chr1:161008543-161008556
2	CTCF	chr1:161008420-161008570	HRE	kidney:	n/a	chr1:161008543-161008556
3	POLR2A	chr1:161008153-161009077	GM12892	blood:	n/a	n/a
4	USF1	chr1:161008322-161008729	SK-N-SH	brain:	n/a	n/a
5	CTCF	chr1:161008540-161008690	GM12865	blood:	n/a	chr1:161008543-161008556
6	POLR2A	chr1:161007957-161009036	GM12878	blood:	n/a	n/a
7	GABPA	chr1:161008425-161009005	GM12878	blood:	n/a	n/a
8	ELK1	chr1:161008531-161008988	GM12878	blood:	n/a	n/a
9	SIN3AK20	chr1:161007599-161009021	MCF-7	breast:	n/a	n/a
10	ZEB1	chr1:161008429-161008903	GM12878	blood:	n/a	chr1:161008813-161008824 chr1:161008530-161008537
11	HA-E2F1	chr1:161008205-161009059	MCF-7	breast:	n/a	chr1:161008803-161008813 chr1:161008799-161008808
12	EGR1	chr1:161007843-161009279	HCT-116	colon:	n/a	chr1:161008803-161008816 chr1:161008803-161008813 chr1:161008804-161008815 chr1:161008803-161008816 chr1:161008804-161008814 chr1:161008804-161008814 chr1:161008804-161008813 chr1:161008803-161008816 chr1:161008802-161008816 chr1:161008802-161008817 chr1:161008803-161008816
13	MAZ	chr1:161008337-161009018	GM12878	blood:	n/a	n/a
14	MAX	chr1:161008360-161009052	H1-hESC	embryonic stem cell:	n/a	n/a
15	NFATC1	chr1:161008263-161009032	GM12878	blood:	n/a	n/a
16	TAF1	chr1:161008403-161009059	H1-hESC	embryonic stem cell:	n/a	n/a
17	GABPA	chr1:161008513-161008973	H1-hESC	embryonic stem cell:	n/a	n/a
18	NFATC1	chr1:161008346-161008953	GM12878	blood:	n/a	n/a
19	YY1	chr1:161008296-161009030	GM12892	blood:	n/a	chr1:161008802-161008816 chr1:161008788-161008802 chr1:161008802-161008811 chr1:161008799-161008808
20	GABPA	chr1:161008503-161009061	HL-60	blood:	n/a	n/a
21	POLR2A	chr1:161008284-161009056	GM12878	blood:	n/a	n/a
22	MAX	chr1:161008311-161008937	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr1:161008342-161008977	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr1:161008428-161008698	A549	lung:	n/a	n/a
25	POLR2A	chr1:161007917-161009059	GM12891	blood:	n/a	n/a
26	TEAD4	chr1:161007992-161009049	ECC-1	luminal epithelium:	n/a	n/a
27	POLR2A	chr1:161008050-161009032	ECC-1	luminal epithelium:	n/a	n/a
28	RUNX3	chr1:161008339-161009099	GM12878	blood:	n/a	n/a
29	POLR2A	chr1:161008326-161009033	GM12892	blood:	n/a	n/a
30	POLR2A	chr1:161008379-161008739	K562	blood:	n/a	n/a
31	YY1	chr1:161008434-161008854	K562	blood:	n/a	chr1:161008802-161008816 chr1:161008788-161008802 chr1:161008802-161008811 chr1:161008799-161008808
32	CTCF	chr1:161008449-161008641	GM12891	blood:	n/a	chr1:161008543-161008556
33	STAT5A	chr1:161007852-161009029	GM12878	blood:	n/a	chr1:161008902-161008925
34	BCLAF1	chr1:161008416-161009012	GM12878	blood:	n/a	chr1:161008801-161008810
35	POLR2A	chr1:161008326-161008946	HUVEC	blood vessel:	n/a	n/a
36	YY1	chr1:161008449-161008857	GM12891	blood:	n/a	chr1:161008802-161008816 chr1:161008788-161008802 chr1:161008802-161008811 chr1:161008799-161008808
37	NFIC	chr1:161008452-161009000	GM12878	blood:	n/a	n/a
38	POLR2A	chr1:161008413-161008938	MCF10A-Er-Src	breast:	n/a	n/a
39	ZEB1	chr1:161008193-161009027	GM12878	blood:	n/a	chr1:161008813-161008824 chr1:161008530-161008537
40	CTCF	chr1:161008511-161008574	Lung_OC	lung:	n/a	chr1:161008543-161008556
41	POLR2A	chr1:161008429-161008984	H1-hESC	embryonic stem cell:	n/a	n/a
42	SIN3AK20	chr1:161007947-161008997	MCF-7	breast:	n/a	n/a
43	POU2F2	chr1:161008228-161009020	GM12891	blood:	n/a	chr1:161008804-161008816 chr1:161008807-161008819
44	POLR2A	chr1:161008039-161009078	H1-hESC	embryonic stem cell:	n/a	n/a
45	ELF1	chr1:161008302-161009015	GM12878	blood:	n/a	chr1:161008641-161008653
46	MAX	chr1:161007953-161009085	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr1:161007856-161009025	GM12878	blood:	n/a	n/a
48	FOXM1	chr1:161008181-161009147	GM12878	blood:	n/a	n/a
49	PML	chr1:161008466-161008902	GM12878	blood:	n/a	n/a
50	CTCF	chr1:161008440-161008590	GM12872	blood:	n/a	chr1:161008543-161008556

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:161008542-161008592	HRCEpiC	kidney:	n/a
2	chr1:161008542-161008592	IMR90	lung:	fetal
3	chr1:161008542-161008592	AG04450	lung:	fetal
4	chr1:161008542-161008592	Hepatocyte	liver:	n/a
5	chr1:161008542-161008592	U87	brain:	n/a
6	chr1:161008542-161008592	Hela-S3	cervix:	n/a
7	chr1:161008542-161008592	GM06990	blood:	n/a
8	chr1:161008542-161008592	Caco-2	colon:	n/a
9	chr1:161008542-161008592	SAEC	small airway:	n/a
10	chr1:161008542-161008592	BE2_C	brain:	n/a
11	chr1:161008542-161008592	HCF	heart:	n/a
12	chr1:161008542-161008592	HCM	heart:	n/a
13	chr1:161008542-161008592	HEK293	kidney:	embryo
14	chr1:161008542-161008592	ECC-1	luminal epithelium:	n/a
15	chr1:161008542-161008592	NHDF-neo	bronchial:	n/a
16	chr1:161008542-161008592	HIPEpiC	eye:	n/a
17	chr1:161008542-161008592	PrEC	prostate:	n/a
18	chr1:161008542-161008592	RPTEC	kidney:	n/a
19	chr1:161008542-161008592	GM12892	blood:	n/a
20	chr1:161008542-161008592	AG10803	skin:	n/a
21	chr1:161008542-161008592	HCPEpiC	choroid plexus:	n/a
22	chr1:161008542-161008592	SKMC	muscle:	n/a
23	chr1:161008542-161008592	HAEpiC	amniotic membrane:	n/a
24	chr1:161008542-161008592	HRE	kidney:	n/a
25	chr1:161008542-161008592	LNCaP	prostate:	n/a
26	chr1:161008542-161008592	SK-N-SH	brain:	n/a
27	chr1:161008542-161008592	AG09319	gingival:	n/a
28	chr1:161008542-161008592	MCF10A-Er-Src	breast:	n/a
29	chr1:161008542-161008592	H1-hESC	embryonic stem cell:	embryo
30	chr1:161008542-161008592	Jurkat	blood:	n/a
31	chr1:161008542-161008592	HL-60	blood:	n/a
32	chr1:161008542-161008592	SK-N-MC	brain:	n/a
33	chr1:161008542-161008592	HMEC	breast:	n/a
34	chr1:161008542-161008592	ProgFib	skin:	n/a
35	chr1:161008542-161008592	CMK	blood:	n/a
36	chr1:161008542-161008592	K562	blood:	n/a
37	chr1:161008542-161008592	GM19239	blood:	n/a
38	chr1:161008542-161008592	GM12878	blood:	n/a
39	chr1:161008542-161008592	NHBE	bronchial:	n/a
40	chr1:161008542-161008592	HEEpiC	esophagus:	n/a
41	chr1:161008542-161008592	BJ	skin:	n/a
42	chr1:161008542-161008592	HepG2	liver:	n/a
43	chr1:161008542-161008592	MCF-7	breast:	n/a
44	chr1:161008542-161008592	HNPCEpiC	eye:	n/a
45	chr1:161008542-161008592	NT2-D1	testis:	n/a
46	chr1:161008542-161008592	A549	lung:	n/a
47	chr1:161008542-161008592	ovcar-3	ovarian:	n/a
48	chr1:161008542-161008592	SK-N-SH_RA	brain:	n/a
49	chr1:161008542-161008592	T-47D	breast:	n/a
50	chr1:161008542-161008592	NB4	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:161006227..161009098-chr1:161086419..161089402,2	MCF-7	breast:
2	chr1:161007165..161010190-chr1:161058502..161060475,3	MCF-7	breast:
3	chr1:161007047..161009717-chr1:161100084..161102311,2	K562	blood:
4	chr1:160989087..160991942-chr1:161007144..161014242,6	K562	blood:
5	chr1:161007801..161009697-chr1:161067796..161070375,2	K562	blood:
6	chr1:161006354..161009878-chr1:161042497..161045575,4	MCF-7	breast:
7	chr1:160988819..160994033-chr1:161005548..161011188,8	MCF-7	breast:
8	chr1:161007064..161010778-chr1:161101040..161104167,3	MCF-7	breast:
9	chr1:160990711..160991608-chr1:161008481..161009243,2	MCF-7	breast:
10	chr1:160989495..160995605-chr1:161004888..161010340,15	MCF-7	breast:
11	chr1:161006846..161009787-chr1:161123441..161125743,2	MCF-7	breast:
12	chr1:160988071..160992174-chr1:161007125..161014242,7	K562	blood:
13	chr1:161005808..161012985-chr1:161064732..161070101,9	MCF-7	breast:

Variant related genes	Relation type
TSTD1	TF binding region
TSTD1	CpG island
ENSG00000158769	Chromatin interaction
ENSG00000143256	Chromatin interaction
ENSG00000158796	Chromatin interaction
ENSG00000162755	Chromatin interaction
ENSG00000143222	Chromatin interaction
ENSG00000158793	Chromatin interaction
ENSG00000143217	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv947201	chr1:161006051-161013276	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv548059	chr1:161007326-161010791	Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv3221	chr1:161008175-161052979	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161003200-161008800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:161004000-161009200	Weak transcription	Hela-S3	cervix
3	chr1:161005000-161009400	Weak transcription	K562	blood
4	chr1:161007000-161009200	Weak transcription	NHDF-Ad	bronchial
5	chr1:161007000-161013400	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:161007200-161008800	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr1:161007200-161009000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr1:161007400-161008600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:161007400-161009000	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr1:161007400-161009200	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr1:161007400-161009200	Active TSS	Rectal Smooth Muscle	rectum
12	chr1:161007400-161013400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:161007400-161013400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:161007400-161013400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:161007400-161013400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:161007600-161008600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
17	chr1:161007600-161008600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
18	chr1:161007600-161008600	Flanking Active TSS	NHEK	skin
19	chr1:161007600-161008800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:161007600-161009000	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr1:161007600-161009000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr1:161007600-161009000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:161007600-161009000	Active TSS	Colon Smooth Muscle	Colon
24	chr1:161007600-161009200	Flanking Active TSS	Dnd41	blood
25	chr1:161007600-161009200	Weak transcription	HepG2	liver
26	chr1:161007600-161009400	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
27	chr1:161007600-161013400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:161007800-161008600	Flanking Active TSS	Thymus	Thymus
29	chr1:161007800-161008800	Active TSS	H1 Cell Line	embryonic stem cell
30	chr1:161007800-161008800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr1:161007800-161009000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:161007800-161009000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:161007800-161009000	Active TSS	Brain Hippocampus Middle	brain
34	chr1:161007800-161009000	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr1:161007800-161009000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr1:161007800-161009000	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr1:161007800-161009000	Transcr. at gene 5' and 3'	Placenta	Placenta
38	chr1:161007800-161009000	Active TSS	HSMMtube	muscle
39	chr1:161007800-161009200	Active TSS	H9 Cell Line	embryonic stem cell
40	chr1:161007800-161009200	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr1:161007800-161009200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr1:161007800-161009200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr1:161007800-161009200	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
44	chr1:161007800-161009400	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr1:161008000-161008600	Active TSS	Brain Cingulate Gyrus	brain
46	chr1:161008000-161008600	Flanking Active TSS	Fetal Brain Male	brain
47	chr1:161008000-161008600	Flanking Active TSS	Fetal Muscle Trunk	muscle
48	chr1:161008000-161008600	Flanking Active TSS	Fetal Muscle Leg	muscle
49	chr1:161008000-161008800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr1:161008000-161008800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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