Variant report

Variant	rs74127620
Chromosome Location	chr1:161283818-161283819
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:210)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:210 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF2	chr1:161283646-161284449	GM12878	blood:	n/a	chr1:161284096-161284107
2	CREB1	chr1:161283776-161284526	GM12878	blood:	n/a	n/a
3	STAT5A	chr1:161283817-161284253	GM12878	blood:	n/a	n/a
4	MAX	chr1:161283520-161284221	H1-hESC	embryonic stem cell:	n/a	chr1:161284098-161284107 chr1:161283820-161283830
5	TBL1XR1	chr1:161283799-161284647	K562	blood:	n/a	n/a
6	TEAD4	chr1:161283720-161284417	ECC-1	luminal epithelium:	n/a	n/a
7	REST	chr1:161283712-161284803	HL-60	blood:	n/a	chr1:161284691-161284701
8	TAF1	chr1:161283745-161284777	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr1:161283447-161285014	K562	blood:	n/a	n/a
10	GABPA	chr1:161283614-161284857	A549	lung:	n/a	n/a
11	TAF1	chr1:161283816-161284484	GM12878	blood:	n/a	n/a
12	IRF1	chr1:161283725-161284768	K562	blood:	n/a	n/a
13	CBX3	chr1:161283741-161284850	K562	blood:	n/a	n/a
14	TAF1	chr1:161283634-161284862	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr1:161283486-161284915	A549	lung:	n/a	chr1:161284098-161284107 chr1:161283820-161283830
16	ATF2	chr1:161283795-161284379	H1-hESC	embryonic stem cell:	n/a	n/a
17	BRCA1	chr1:161283762-161283948	GM12878	blood:	n/a	n/a
18	POLR2A	chr1:161283817-161284745	GM19193	blood:	n/a	n/a
19	ELF1	chr1:161283747-161284509	GM12878	blood:	n/a	chr1:161284135-161284144
20	POLR2A	chr1:161283508-161284715	HepG2	liver:	n/a	n/a
21	MAZ	chr1:161283527-161284828	K562	blood:	n/a	chr1:161284098-161284107 chr1:161283820-161283830
22	E2F6	chr1:161283546-161284384	A549	lung:	n/a	n/a
23	IRF1	chr1:161283770-161284397	K562	blood:	n/a	n/a
24	E2F6	chr1:161283482-161284710	K562	blood:	n/a	n/a
25	POLR2A	chr1:161283672-161284573	U87	brain:	n/a	n/a
26	SP1	chr1:161283714-161284530	A549	lung:	n/a	chr1:161283815-161283829 chr1:161284006-161284017
27	POLR2A	chr1:161283552-161284798	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAX	chr1:161283453-161284459	MCF-7	breast:	n/a	chr1:161284098-161284107 chr1:161283820-161283830
29	TEAD4	chr1:161283669-161284428	K562	blood:	n/a	n/a
30	SP4	chr1:161283535-161284433	H1-hESC	embryonic stem cell:	n/a	chr1:161284006-161284017
31	CEBPD	chr1:161283731-161284363	HepG2	liver:	n/a	n/a
32	POLR2A	chr1:161283796-161284936	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr1:161283815-161284620	GM12891	blood:	n/a	n/a
34	MYC	chr1:161283705-161284626	NB4	blood:	n/a	chr1:161284098-161284107 chr1:161283820-161283830
35	IRF1	chr1:161283779-161284896	K562	blood:	n/a	n/a
36	POLR2A	chr1:161283483-161284884	K562	blood:	n/a	n/a
37	POLR2A	chr1:161283388-161284946	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr1:161283809-161284477	U87	brain:	n/a	n/a
39	ZMIZ1	chr1:161283560-161284684	K562	blood:	n/a	n/a
40	HEY1	chr1:161283403-161284753	HepG2	liver:	n/a	n/a
41	POLR2A	chr1:161283658-161284661	MCF-7	breast:	n/a	n/a
42	ETS1	chr1:161283758-161284490	A549	lung:	n/a	n/a
43	MTA3	chr1:161283381-161284768	GM12878	blood:	n/a	n/a
44	POLR2A	chr1:161283755-161284472	PANC-1	pancreas:	n/a	n/a
45	POLR2A	chr1:161283648-161284825	K562	blood:	n/a	n/a
46	POLR2A	chr1:161283737-161285000	PBDE	blood:	n/a	n/a
47	POLR2A	chr1:161283589-161284958	HUVEC	blood vessel:	n/a	n/a
48	MAX	chr1:161283377-161284823	K562	blood:	n/a	chr1:161284098-161284107 chr1:161283820-161283830
49	BHLHE40	chr1:161283699-161284749	K562	blood:	n/a	n/a
50	REST	chr1:161283818-161284514	H1-neurons	neurons:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:161170756..161173506-chr1:161282085..161284207,2	MCF-7	breast:
2	chr1:161283543..161284335-chr17:4458495..4459093,2	HCT-116	colon:
3	chr1:161282416..161286426-chr1:161334773..161339073,4	K562	blood:
4	chr1:161177155..161181241-chr1:161281992..161286131,5	K562	blood:
5	chr1:161282812..161285638-chr1:161335844..161339793,4	MCF-7	breast:
6	chr1:161137931..161140889-chr1:161281311..161284069,2	K562	blood:
7	chr1:161167845..161171671-chr1:161283687..161286298,5	K562	blood:
8	chr1:161278785..161280602-chr1:161282077..161284441,2	MCF-7	breast:
9	chr1:161281353..161283916-chr1:161334777..161336418,2	K562	blood:
10	chr1:161183575..161186410-chr1:161283060..161284793,2	K562	blood:
11	chr1:161194292..161205045-chr1:161279588..161288493,17	K562	blood:
12	chr1:161194282..161198259-chr1:161282397..161284753,4	MCF-7	breast:
13	chr1:161229659..161232274-chr1:161282261..161284000,2	K562	blood:
14	chr1:161275235..161277911-chr1:161283525..161285261,2	MCF-7	breast:
15	chr1:161282488..161284782-chr1:161336079..161338046,2	MCF-7	breast:
16	chr1:161194451..161198420-chr1:161282525..161287303,8	K562	blood:
17	chr1:161191256..161193783-chr1:161281655..161284632,2	K562	blood:
18	chr1:161227745..161230399-chr1:161282979..161284618,2	MCF-7	breast:

No data

Variant related genes	Relation type
MPZ	TF binding region
SDHC	TF binding region
ENSG00000188931	Chromatin interaction
ENSG00000248485	Chromatin interaction
ENSG00000235477	Chromatin interaction
ENSG00000143257	Chromatin interaction
ENSG00000158882	Chromatin interaction
ENSG00000132382	Chromatin interaction
ENSG00000158874	Chromatin interaction
ENSG00000263548	Chromatin interaction
ENSG00000158859	Chromatin interaction
ENSG00000143224	Chromatin interaction
ENSG00000158869	Chromatin interaction
ENSG00000158887	Chromatin interaction
ENSG00000158864	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs34887199	1.00[AMR][1000 genomes]
rs55880062	1.00[AMR][1000 genomes]
rs56758346	1.00[AMR][1000 genomes]
rs57560345	1.00[AMR][1000 genomes]
rs61642842	1.00[AMR][1000 genomes]
rs74124650	1.00[AMR][1000 genomes]
rs74124652	1.00[AMR][1000 genomes]
rs74124653	1.00[AMR][1000 genomes]
rs74124672	1.00[AMR][1000 genomes]
rs74124691	1.00[AMR][1000 genomes]
rs74124697	1.00[AMR][1000 genomes]
rs74124950	1.00[AMR][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	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	nsv432986	chr1:161221133-161673682	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv1010776	chr1:161282384-161409218	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 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	chr1:161283200-161284000	Flanking Active TSS	Duodenum Mucosa	Duodenum
2	chr1:161283200-161285200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:161283400-161284000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
4	chr1:161283400-161284000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
5	chr1:161283400-161284000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr1:161283400-161284000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr1:161283400-161284000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr1:161283400-161284000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:161283400-161284000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:161283400-161284000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr1:161283400-161284000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr1:161283400-161284000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:161283400-161284000	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr1:161283400-161284000	Flanking Active TSS	Dnd41	blood
15	chr1:161283400-161284000	Flanking Active TSS	Hela-S3	cervix
16	chr1:161283400-161284000	Flanking Active TSS	Osteobl	bone
17	chr1:161283400-161284200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:161283400-161284600	Active TSS	H1 Cell Line	embryonic stem cell
19	chr1:161283400-161284600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:161283400-161284600	Active TSS	Fetal Brain Female	brain
21	chr1:161283400-161284600	Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr1:161283400-161284800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:161283400-161284800	Active TSS	Brain Substantia Nigra	brain
24	chr1:161283400-161284800	Active TSS	Fetal Lung	lung
25	chr1:161283400-161285000	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr1:161283400-161285000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:161283400-161285000	Active TSS	Colonic Mucosa	Colon
28	chr1:161283400-161285200	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr1:161283400-161285200	Active TSS	Right Atrium	heart
30	chr1:161283400-161285200	Active TSS	A549	lung
31	chr1:161283400-161285200	Active TSS	NHDF-Ad	bronchial
32	chr1:161283400-161285400	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr1:161283600-161284000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:161283600-161284000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:161283600-161284000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:161283600-161284000	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:161283600-161284000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:161283600-161284000	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr1:161283600-161284000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr1:161283600-161284000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr1:161283600-161284000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:161283600-161284000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr1:161283600-161284000	Flanking Active TSS	Fetal Muscle Leg	muscle
44	chr1:161283600-161284000	Flanking Active TSS	Fetal Thymus	thymus
45	chr1:161283600-161284000	Flanking Active TSS	HSMM	muscle
46	chr1:161283600-161284000	Flanking Active TSS	HSMMtube	muscle
47	chr1:161283600-161284000	Flanking Active TSS	HUVEC	blood vessel
48	chr1:161283600-161284000	Flanking Active TSS	NH-A	brain
49	chr1:161283600-161284600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:161283600-161284600	Active TSS	Brain Hippocampus Middle	brain

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