Variant report

Variant	rs4970937
Chromosome Location	chr1:151044874-151044875
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:55)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:55 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:151044860-151045010	AG04450	lung:	n/a	n/a
2	CTCF	chr1:151044800-151044950	HRPEpiC	eye:	n/a	n/a
3	CTCF	chr1:151044675-151045177	K562	blood:	n/a	n/a
4	CTCF	chr1:151044760-151044910	HCPEpiC	choroid plexus:	n/a	n/a
5	RCOR1	chr1:151044700-151044911	K562	blood:	n/a	n/a
6	CTCF	chr1:151044676-151045006	K562	blood:	n/a	n/a
7	CTCF	chr1:151044800-151044950	WERI-Rb-1	eye:	n/a	n/a
8	CTCF	chr1:151044862-151044974	MCF-7	breast:	n/a	n/a
9	JUND	chr1:151044859-151044887	K562	blood:	n/a	n/a
10	CTCF	chr1:151044860-151045010	GM12864	blood:	n/a	n/a
11	CTCF	chr1:151044800-151044950	HAc	cerebellar:	n/a	n/a
12	CTCF	chr1:151044861-151044878	GM19240	blood:	n/a	n/a
13	CTCF	chr1:151044774-151044954	K562	blood:	n/a	n/a
14	CTCF	chr1:151044860-151045010	HRE	kidney:	n/a	n/a
15	CTCF	chr1:151044800-151044950	HepG2	liver:	n/a	n/a
16	RAD21	chr1:151044711-151044923	K562	blood:	n/a	n/a
17	RAD21	chr1:151044783-151044903	K562	blood:	n/a	n/a
18	CTCF	chr1:151044843-151044903	MCF-7	breast:	n/a	n/a
19	CTCF	chr1:151044800-151044950	GM12874	blood:	n/a	n/a
20	CTCF	chr1:151044625-151045082	MCF-7	breast:	n/a	n/a
21	CTCF	chr1:151044760-151044910	HCFaa	heart:	n/a	n/a
22	CTCF	chr1:151044640-151044890	HFF-Myc	foreskin:	n/a	n/a
23	CTCF	chr1:151044840-151044990	HepG2	liver:	n/a	n/a
24	CTCF	chr1:151044800-151044950	HCT-116	colon:	n/a	n/a
25	CTCF	chr1:151044780-151044930	HVMF	connective:	n/a	n/a
26	ZBTB7A	chr1:151044757-151044995	K562	blood:	n/a	n/a
27	CTCF	chr1:151044812-151044972	MCF-7	breast:	n/a	n/a
28	JUN	chr1:151044684-151044884	K562	blood:	n/a	n/a
29	CTCF	chr1:151044800-151044950	HFF-Myc	foreskin:	n/a	n/a
30	CTCF	chr1:151044800-151044950	HPAF	blood vessel:	n/a	n/a
31	CTCF	chr1:151044800-151044950	SK-N-SH_RA	brain:	n/a	n/a
32	JUN	chr1:151041392-151045145	K562	blood:	n/a	chr1:151042028-151042035 chr1:151042007-151042017
33	CTCF	chr1:151044840-151044990	HUVEC	blood vessel:	n/a	n/a
34	MAX	chr1:151044719-151044942	K562	blood:	n/a	n/a
35	CTCF	chr1:151044820-151044970	GM12864	blood:	n/a	n/a
36	CTCF	chr1:151044774-151045021	HepG2	liver:	n/a	n/a
37	CTCF	chr1:151044664-151045038	K562	blood:	n/a	n/a
38	CTCF	chr1:151044740-151044890	HMF	breast:	n/a	n/a
39	CTCF	chr1:151044654-151044982	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr1:151044795-151045060	K562	blood:	n/a	n/a
41	CTCF	chr1:151044820-151044970	HCT-116	colon:	n/a	n/a
42	ZNF384	chr1:151044842-151044881	K562	blood:	n/a	n/a
43	CTCF	chr1:151044687-151045031	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr1:151044800-151044950	HBMEC	blood vessel:	n/a	n/a
45	CTCF	chr1:151044800-151044950	AG10803	skin:	n/a	n/a
46	CTCF	chr1:151044760-151044910	MCF-7	breast:	n/a	n/a
47	CTCF	chr1:151044796-151044919	HepG2	liver:	n/a	n/a
48	CTCF	chr1:151044780-151044930	HA-sp	spinal cord:	n/a	n/a
49	CTCF	chr1:151044800-151044950	K562	blood:	n/a	n/a
50	CTCF	chr1:151042675-151045000	A549	lung:	n/a	chr1:151043691-151043712 chr1:151042992-151043001 chr1:151043692-151043701 chr1:151043694-151043704 chr1:151043689-151043707 chr1:151043692-151043705 chr1:151043690-151043706 chr1:151043692-151043705

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150550567..150552845-chr1:151042071..151045056,2	MCF-7	breast:
2	chr1:151042356..151044958-chr1:151252271..151256325,4	K562	blood:
3	chr1:150977392..150983338-chr1:151040807..151046211,16	MCF-7	breast:
4	chr1:151043812..151045810-chr1:151065348..151067494,2	K562	blood:
5	chr1:150997053..150997598-chr1:151044515..151045335,3	MCF-7	breast:
6	chr1:151043637..151045310-chr1:151061634..151063146,2	MCF-7	breast:
7	chr1:150532621..150534705-chr1:151041557..151045135,3	K562	blood:
8	chr1:151000849..151004136-chr1:151043439..151047441,3	K562	blood:
9	chr1:151044680..151046429-chr1:151136336..151137837,2	K562	blood:
10	chr1:150978947..150982308-chr1:151041500..151045951,4	K562	blood:
11	chr1:151042160..151045059-chr1:151225748..151228568,3	MCF-7	breast:
12	chr1:151041683..151045028-chr1:151160226..151163233,4	MCF-7	breast:
13	chr1:151043837..151046087-chr1:151112231..151114471,2	K562	blood:
14	chr1:151040013..151045011-chr1:151111761..151118476,6	MCF-7	breast:
15	chr1:151042151..151045476-chr1:151127754..151130933,3	MCF-7	breast:

No data

Variant related genes	Relation type
CDC42SE1	TF binding region
ENSG00000143458	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000143384	Chromatin interaction
ENSG00000143363	Chromatin interaction
ENSG00000203804	Chromatin interaction
ENSG00000159352	Chromatin interaction
ENSG00000163154	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000163156	Chromatin interaction
ENSG00000143434	Chromatin interaction
ENSG00000143409	Chromatin interaction
ENSG00000163159	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11204770	1.00[ASN][1000 genomes]
rs11204776	0.91[ASN][1000 genomes]
rs11204781	1.00[ASN][1000 genomes]
rs12079532	1.00[ASN][1000 genomes]
rs12082869	1.00[ASN][1000 genomes]
rs12085364	1.00[ASN][1000 genomes]
rs12089976	1.00[ASN][1000 genomes]
rs12090604	1.00[ASN][1000 genomes]
rs12093277	1.00[ASN][1000 genomes]
rs59454556	1.00[ASN][1000 genomes]
rs62621412	1.00[ASN][1000 genomes]

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	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151043600-151048200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:151043600-151048800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:151043600-151049600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:151043600-151050200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:151043800-151047200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:151043800-151056200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:151044000-151045000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:151044000-151046400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:151044000-151046400	Weak transcription	NH-A	brain
10	chr1:151044000-151047000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:151044000-151047400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:151044000-151048800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr1:151044000-151062800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:151044000-151066800	Weak transcription	Ovary	ovary
15	chr1:151044000-151079600	Weak transcription	Spleen	Spleen
16	chr1:151044000-151080600	Weak transcription	Esophagus	oesophagus
17	chr1:151044200-151045000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:151044200-151045000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:151044200-151045000	Enhancers	Fetal Muscle Trunk	muscle
20	chr1:151044200-151045000	Enhancers	Psoas Muscle	Psoas
21	chr1:151044200-151045000	Flanking Active TSS	K562	blood
22	chr1:151044200-151045200	Enhancers	Placenta	Placenta
23	chr1:151044200-151045600	Enhancers	HepG2	liver
24	chr1:151044200-151046000	Enhancers	Primary T cells fromperipheralblood	blood
25	chr1:151044200-151047600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:151044200-151049200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:151044200-151069800	Weak transcription	HSMM	muscle
28	chr1:151044200-151070800	Weak transcription	Fetal Lung	lung
29	chr1:151044200-151080200	Weak transcription	Aorta	Aorta
30	chr1:151044400-151045000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:151044400-151045000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr1:151044400-151045000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr1:151044400-151045000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr1:151044400-151045000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr1:151044400-151045000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:151044400-151045000	Enhancers	Adipose Nuclei	Adipose
37	chr1:151044400-151045000	Enhancers	Fetal Thymus	thymus
38	chr1:151044400-151045000	Enhancers	Pancreas	Pancrea
39	chr1:151044400-151045000	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr1:151044400-151045600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:151044400-151045600	Weak transcription	Fetal Muscle Leg	muscle
42	chr1:151044400-151045600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:151044400-151046600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr1:151044400-151047000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr1:151044400-151047000	Weak transcription	HMEC	breast
46	chr1:151044400-151047200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr1:151044400-151048400	Weak transcription	HUVEC	blood vessel
48	chr1:151044400-151061600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr1:151044400-151062200	Weak transcription	Liver	Liver
50	chr1:151044400-151079000	Weak transcription	Left Ventricle	heart

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