Variant report

Variant	rs74124660
Chromosome Location	chr1:161171036-161171037
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:161168167-161172509	HUVEC	blood vessel:	n/a	n/a
2	GATA2	chr1:161170916-161172161	HUVEC	blood vessel:	n/a	chr1:161171253-161171264 chr1:161171048-161171059
3	POLR2A	chr1:161169757-161172690	HUVEC	blood vessel:	n/a	n/a
4	HEY1	chr1:161170465-161171126	HepG2	liver:	n/a	n/a
5	POLR2A	chr1:161170744-161172655	HL-60	blood:	n/a	n/a
6	EBF1	chr1:161170952-161171072	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:161166380-161172732	SK-N-MC	brain:	n/a	n/a
8	HCFC1	chr1:161170610-161172958	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr1:161170023-161172546	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr1:161169591-161172525	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr1:161170937-161172415	K562	blood:	n/a	n/a
12	CBX3	chr1:161170905-161171599	K562	blood:	n/a	n/a
13	IRF1	chr1:161171013-161171320	K562	blood:	n/a	n/a
14	POLR2A	chr1:161169915-161172689	HUVEC	blood vessel:	n/a	n/a
15	TEAD4	chr1:161170332-161172648	K562	blood:	n/a	n/a
16	POLR2A	chr1:161170765-161171207	HepG2	liver:	n/a	n/a
17	MAZ	chr1:161169832-161172649	K562	blood:	n/a	chr1:161171398-161171407
18	HEY1	chr1:161170974-161171376	K562	blood:	n/a	n/a
19	POLR2A	chr1:161170972-161171507	K562	blood:	n/a	n/a
20	POLR2A	chr1:161170889-161172599	K562	blood:	n/a	n/a
21	POLR2A	chr1:161170833-161172548	U87	brain:	n/a	n/a
22	POLR2A	chr1:161170110-161173363	K562	blood:	n/a	n/a
23	POLR2A	chr1:161170847-161172802	IMR90	lung:	n/a	n/a
24	POLR2A	chr1:161167714-161172918	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr1:161170921-161172651	HL-60	blood:	n/a	n/a
26	POLR2A	chr1:161171007-161172788	PFSK-1	brain:	n/a	n/a
27	POLR2A	chr1:161170342-161171120	H1-hESC	embryonic stem cell:	n/a	n/a
28	FOS	chr1:161169935-161172192	HUVEC	blood vessel:	n/a	chr1:161170072-161170081 chr1:161170605-161170615
29	NR2F2	chr1:161170142-161172662	K562	blood:	n/a	n/a
30	SMARCC1	chr1:161170852-161172548	Hela-S3	cervix:	n/a	chr1:161171326-161171335
31	POLR2A	chr1:161170907-161172638	K562	blood:	n/a	n/a
32	ELF1	chr1:161170871-161171260	GM12878	blood:	n/a	n/a
33	POLR2A	chr1:161170769-161172548	U87	brain:	n/a	n/a
34	STAT3	chr1:161170961-161172202	MCF10A-Er-Src	breast:	n/a	n/a
35	SPI1	chr1:161170980-161171585	HL-60	blood:	n/a	chr1:161171257-161171266 chr1:161171254-161171267
36	POLR2A	chr1:161170421-161172653	K562	blood:	n/a	n/a
37	POLR2A	chr1:161170368-161171138	H1-hESC	embryonic stem cell:	n/a	n/a
38	ELF1	chr1:161170896-161172605	K562	blood:	n/a	n/a
39	HCFC1	chr1:161171013-161172602	K562	blood:	n/a	n/a
40	POLR2A	chr1:161170504-161171060	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:161170883..161171418-chr12:48213360..48214115,2	NB4	blood:
2	chr1:161167845..161171671-chr1:161283687..161286298,5	K562	blood:
3	chr1:160989864..160992775-chr1:161169949..161172743,2	MCF-7	breast:
4	chr1:161170229..161173658-chr1:161194306..161198397,5	MCF-7	breast:
5	chr1:161129146..161131988-chr1:161170465..161172275,2	MCF-7	breast:
6	chr1:161141471..161144322-chr1:161168874..161171385,2	K562	blood:
7	chr1:161136333..161138132-chr1:161170864..161173587,2	K562	blood:
8	chr1:161141524..161143840-chr1:161170719..161172655,2	MCF-7	breast:
9	chr1:161128751..161130724-chr1:161170850..161173844,2	MCF-7	breast:
10	chr1:161144879..161147877-chr1:161169961..161172564,2	K562	blood:
11	chr1:161170756..161173506-chr1:161282085..161284207,2	MCF-7	breast:
12	chr1:161166987..161169982-chr1:161170593..161173822,5	MCF-7	breast:
13	chr1:161170920..161172634-chr1:161367719..161371418,3	K562	blood:
14	chr1:161128018..161129911-chr1:161170467..161173789,3	K562	blood:
15	chr1:161146561..161149011-chr1:161170994..161172793,2	K562	blood:
16	chr1:161168408..161172447-chr1:161188045..161190714,3	K562	blood:
17	chr1:161127959..161129889-chr1:161169079..161171967,3	K562	blood:
18	chr1:161085681..161087809-chr1:161170226..161171780,2	K562	blood:

No data

Variant related genes	Relation type
ADAMTS4	TF binding region
NDUFS2	TF binding region
ENSG00000158864	Chromatin interaction
ENSG00000206921	Chromatin interaction
ENSG00000268387	Chromatin interaction
ENSG00000158850	Chromatin interaction
ENSG00000061273	Chromatin interaction
ENSG00000224985	Chromatin interaction
ENSG00000143258	Chromatin interaction
ENSG00000158769	Chromatin interaction
ENSG00000143224	Chromatin interaction
ENSG00000143252	Chromatin interaction
ENSG00000158859	Chromatin interaction
ENSG00000263548	Chromatin interaction
ENSG00000158882	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11265565	1.00[EUR][1000 genomes]
rs74124656	1.00[EUR][1000 genomes]
rs74124657	1.00[EUR][1000 genomes]
rs74124662	1.00[EUR][1000 genomes]
rs74124668	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	esv32799	chr1:161161838-161171520	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161166200-161171800	Enhancers	Spleen	Spleen
2	chr1:161166800-161171600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:161167000-161171600	Enhancers	HMEC	breast
4	chr1:161167800-161171600	Enhancers	Fetal Thymus	thymus
5	chr1:161168400-161171200	Enhancers	Brain Germinal Matrix	brain
6	chr1:161168400-161171600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr1:161168400-161171600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:161168400-161171600	Enhancers	Placenta	Placenta
9	chr1:161168400-161171800	Enhancers	Lung	lung
10	chr1:161168400-161172000	Flanking Active TSS	HepG2	liver
11	chr1:161168600-161171400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr1:161168600-161171400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr1:161168600-161171600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:161168600-161171800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:161168600-161171800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:161168600-161171800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr1:161168800-161171200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:161168800-161171200	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr1:161168800-161171200	Enhancers	Hela-S3	cervix
20	chr1:161168800-161171400	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr1:161168800-161171400	Enhancers	Duodenum Mucosa	Duodenum
22	chr1:161168800-161171400	Enhancers	Fetal Intestine Small	intestine
23	chr1:161168800-161171400	Enhancers	Left Ventricle	heart
24	chr1:161168800-161171600	Enhancers	H9 Cell Line	embryonic stem cell
25	chr1:161168800-161171600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:161168800-161171600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:161168800-161171600	Enhancers	Fetal Muscle Trunk	muscle
28	chr1:161168800-161171800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:161169000-161171400	Enhancers	Primary T cells fromperipheralblood	blood
30	chr1:161169000-161171400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:161169000-161171600	Enhancers	H1 Cell Line	embryonic stem cell
32	chr1:161169000-161171600	Flanking Active TSS	Brain Substantia Nigra	brain
33	chr1:161169000-161171800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr1:161169000-161171800	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr1:161169200-161171200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr1:161169200-161171200	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr1:161169200-161171600	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr1:161169200-161171800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr1:161169400-161171200	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr1:161169400-161171200	Enhancers	Fetal Stomach	stomach
41	chr1:161169400-161171200	Enhancers	Osteobl	bone
42	chr1:161169400-161171400	Enhancers	Fetal Muscle Leg	muscle
43	chr1:161169400-161171600	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr1:161169400-161171600	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr1:161169400-161171600	Enhancers	Primary T cells from cord blood	blood
46	chr1:161169400-161171600	Flanking Active TSS	Brain Cingulate Gyrus	brain
47	chr1:161169400-161171600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
48	chr1:161169400-161171600	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr1:161169600-161171200	Enhancers	HSMMtube	muscle
50	chr1:161169600-161171600	Enhancers	Primary hematopoietic stem cells	blood

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