Variant report

Variant	rs73077752
Chromosome Location	chr1:212780167-212780168
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	chr1:212778466-212788906	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr1:212780095-212783407	Hela-S3	cervix:	n/a	n/a
3	MXI1	chr1:212780127-212780512	GM12878	blood:	n/a	chr1:212780290-212780305
4	TCF12	chr1:212779838-212780638	ECC-1	luminal epithelium:	n/a	n/a
5	SMARCB1	chr1:212780081-212783360	Hela-S3	cervix:	n/a	n/a
6	EGR1	chr1:212780153-212780313	GM12878	blood:	n/a	chr1:212780244-212780258 chr1:212780246-212780255
7	POLR2A	chr1:212778349-212787926	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr1:212780069-212783342	GM19193	blood:	n/a	n/a
9	POLR2A	chr1:212780146-212783758	GM18505	blood:	n/a	n/a
10	POLR2A	chr1:212780146-212787893	GM12878	blood:	n/a	n/a
11	TCF12	chr1:212779886-212782525	A549	lung:	n/a	n/a
12	MYC	chr1:212779904-212780326	MCF10A-Er-Src	breast:	n/a	chr1:212780016-212780023 chr1:212780015-212780024
13	POLR2A	chr1:212779324-212788938	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr1:212780060-212783327	GM12892	blood:	n/a	n/a
15	MAX	chr1:212780055-212783475	A549	lung:	n/a	chr1:212781008-212781017 chr1:212781961-212781971 chr1:212781900-212781909 chr1:212781860-212781870 chr1:212782384-212782394 chr1:212782770-212782779 chr1:212782716-212782726 chr1:212781677-212781687 chr1:212781009-212781016
16	CHD1	chr1:212779286-212788865	IMR90	lung:	n/a	chr1:212783477-212783487 chr1:212782811-212782821
17	CHD2	chr1:212780150-212782574	Hela-S3	cervix:	n/a	n/a
18	TCF12	chr1:212780067-212780529	ECC-1	luminal epithelium:	n/a	n/a
19	MAX	chr1:212780090-212783400	K562	blood:	n/a	chr1:212781008-212781017 chr1:212781961-212781971 chr1:212781900-212781909 chr1:212781860-212781870 chr1:212782384-212782394 chr1:212782770-212782779 chr1:212782716-212782726 chr1:212781677-212781687 chr1:212781009-212781016
20	TBP	chr1:212780160-212780220	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr1:212779999-212787934	GM12878	blood:	n/a	n/a
22	POLR2A	chr1:212780134-212783283	GM18526	blood:	n/a	n/a
23	GATA3	chr1:212778488-212780448	T-47D	breast:	n/a	chr1:212778832-212778839 chr1:212780099-212780115 chr1:212778828-212778844 chr1:212779634-212779650 chr1:212779123-212779130 chr1:212778832-212778839 chr1:212779631-212779652 chr1:212779124-212779141 chr1:212779123-212779130 chr1:212779119-212779135 chr1:212779116-212779137 chr1:212779637-212779647 chr1:212780097-212780118 chr1:212779634-212779650 chr1:212779123-212779130 chr1:212779122-212779132 chr1:212778832-212778839
24	ELF1	chr1:212780090-212783250	GM12878	blood:	n/a	chr1:212781347-212781359
25	PAX5	chr1:212780146-212781171	GM12878	blood:	n/a	chr1:212780672-212780681
26	E2F4	chr1:212779997-212780518	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr1:212780020-212789160	H1-hESC	embryonic stem cell:	n/a	n/a
28	E2F6	chr1:212780048-212783328	H1-hESC	embryonic stem cell:	n/a	chr1:212780892-212780899 chr1:212780892-212780899 chr1:212782504-212782511 chr1:212781671-212781680 chr1:212782461-212782468 chr1:212782504-212782511 chr1:212780892-212780899 chr1:212782504-212782511 chr1:212781668-212781680 chr1:212782461-212782468 chr1:212782461-212782468 chr1:212780891-212780903 chr1:212782379-212782388 chr1:212782808-212782820
29	FOS	chr1:212780127-212780296	MCF10A-Er-Src	breast:	n/a	n/a
30	MAX	chr1:212780115-212780997	ECC-1	luminal epithelium:	n/a	n/a
31	POLR2A	chr1:212780117-212783304	GM19099	blood:	n/a	n/a
32	BHLHE40	chr1:212780141-212782566	GM12878	blood:	n/a	n/a
33	MAZ	chr1:212780146-212783095	GM12878	blood:	n/a	chr1:212781008-212781017 chr1:212781961-212781971 chr1:212781900-212781909 chr1:212781860-212781870 chr1:212782384-212782394 chr1:212782770-212782779 chr1:212782716-212782726 chr1:212781677-212781687 chr1:212781009-212781016
34	POLR2A	chr1:212779228-212783228	H1-neurons	neurons:	n/a	n/a
35	POLR2A	chr1:212780006-212784580	GM12878	blood:	n/a	n/a
36	POLR2A	chr1:212779987-212787925	Hela-S3	cervix:	n/a	n/a
37	RFX5	chr1:212780051-212780416	Hela-S3	cervix:	n/a	n/a
38	SUZ12	chr1:212779614-212781546	NT2-D1	testis:	n/a	n/a
39	SMC3	chr1:212780015-212780214	Hela-S3	cervix:	n/a	n/a
40	MYC	chr1:212779915-212780375	K562	blood:	n/a	chr1:212780016-212780023 chr1:212780015-212780024
41	GTF2F1	chr1:212780055-212780313	Hela-S3	cervix:	n/a	n/a
42	MAZ	chr1:212780069-212780404	Hela-S3	cervix:	n/a	n/a
43	MAZ	chr1:212780101-212780297	K562	blood:	n/a	n/a
44	POLR2A	chr1:212780041-212783542	Hela-S3	cervix:	n/a	n/a
45	HMGN3	chr1:212780086-212780356	K562	blood:	n/a	n/a
46	POLR2A	chr1:212780042-212783435	GM12892	blood:	n/a	n/a
47	GATA1	chr1:212778620-212780603	PBDE	blood:	n/a	chr1:212778832-212778839 chr1:212780099-212780115 chr1:212778828-212778844 chr1:212779634-212779650 chr1:212779123-212779130 chr1:212778832-212778839 chr1:212779631-212779652 chr1:212779124-212779141 chr1:212779123-212779130 chr1:212779119-212779135 chr1:212779116-212779137 chr1:212779637-212779647 chr1:212780097-212780118 chr1:212779634-212779650 chr1:212779123-212779130 chr1:212779122-212779132 chr1:212778832-212778839
48	MYC	chr1:212779907-212780491	MCF10A-Er-Src	breast:	n/a	chr1:212780016-212780023 chr1:212780015-212780024
49	POLR2A	chr1:212779969-212783057	H1-neurons	neurons:	n/a	n/a
50	E2F6	chr1:212780119-212780548	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:212730770..212733133-chr1:212778739..212783577,4	MCF-7	breast:
2	chr1:212588056..212590074-chr1:212779163..212783567,3	K562	blood:
3	chr1:212779176..212786217-chr1:213030148..213034937,8	K562	blood:
4	chr1:212779956..212783547-chr1:212870276..212874584,4	K562	blood:
5	chr1:212777301..212780836-chr1:212781036..212784328,4	MCF-7	breast:
6	chr1:212729491..212744666-chr1:212778733..212791648,68	K562	blood:
7	chr1:212779956..212785175-chr1:212870276..212874748,7	K562	blood:
8	chr1:212752372..212753937-chr1:212778628..212781608,2	K562	blood:
9	chr1:212729172..212744062-chr1:212776412..212791648,77	K562	blood:
10	chr1:212779632..212786722-chr1:212965265..212968763,9	K562	blood:
11	chr1:212779632..212786722-chr1:212963640..212968604,10	K562	blood:

Variant related genes	Relation type
ATF3	TF binding region
ENSG00000123685	Chromatin interaction
ENSG00000260805	Chromatin interaction
ENSG00000065600	Chromatin interaction
ENSG00000162769	Chromatin interaction
ENSG00000162772	Chromatin interaction
ENSG00000203705	Chromatin interaction
ENSG00000117697	Chromatin interaction
ENSG00000198468	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11571524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11571533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11571535	1.00[AMR][1000 genomes]
rs11571558	1.00[AMR][1000 genomes]
rs3001261	1.00[AMR][1000 genomes]
rs58103452	1.00[AMR][1000 genomes]
rs58411510	1.00[AMR][1000 genomes]
rs58475088	1.00[AMR][1000 genomes]
rs60028272	1.00[AMR][1000 genomes]
rs61531628	1.00[AMR][1000 genomes]
rs73075890	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73075893	1.00[AMR][1000 genomes]
rs73075901	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73077743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73077745	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73077750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73077765	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73077787	1.00[AMR][1000 genomes]
rs73077796	1.00[AMR][1000 genomes]
rs73077801	1.00[AMR][1000 genomes]
rs73079812	1.00[AMR][1000 genomes]
rs73079819	1.00[AMR][1000 genomes]
rs73079839	1.00[AMR][1000 genomes]
rs73079842	1.00[AMR][1000 genomes]
rs73079854	1.00[AMR][1000 genomes]
rs73079874	1.00[AMR][1000 genomes]
rs73079900	1.00[AMR][1000 genomes]
rs73081820	1.00[AMR][1000 genomes]
rs73081821	1.00[AMR][1000 genomes]
rs73081838	1.00[AMR][1000 genomes]
rs73081848	1.00[AMR][1000 genomes]
rs73081859	1.00[AMR][1000 genomes]
rs73081865	1.00[AMR][1000 genomes]
rs73081874	1.00[AMR][1000 genomes]
rs73081896	1.00[AMR][1000 genomes]
rs73083716	1.00[AMR][1000 genomes]
rs73083720	1.00[AMR][1000 genomes]
rs73083723	1.00[AMR][1000 genomes]
rs73088535	1.00[AMR][1000 genomes]
rs73088538	1.00[AMR][1000 genomes]
rs73088542	1.00[AMR][1000 genomes]
rs73088546	1.00[AMR][1000 genomes]
rs73090557	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	esv2757770	chr1:212648143-212843103	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
5	esv2758996	chr1:212648143-212843103	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
6	nsv428588	chr1:212705588-212862875	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212778000-212780200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:212778000-212780200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:212778600-212780200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:212778600-212780400	Bivalent Enhancer	HSMMtube	muscle
5	chr1:212778800-212780200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:212778800-212780200	Bivalent Enhancer	Fetal Thymus	thymus
7	chr1:212778800-212780600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:212778800-212780600	Bivalent Enhancer	Fetal Lung	lung
9	chr1:212779000-212780200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:212779000-212780200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
11	chr1:212779000-212780200	Bivalent Enhancer	Fetal Muscle Leg	muscle
12	chr1:212779000-212780800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
13	chr1:212779200-212780200	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:212779200-212780400	Bivalent Enhancer	Colon Smooth Muscle	Colon
15	chr1:212779400-212780200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr1:212779400-212780200	Flanking Active TSS	NHEK	skin
17	chr1:212779400-212780400	Active TSS	Brain Substantia Nigra	brain
18	chr1:212779400-212781600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
19	chr1:212779400-212781800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:212779600-212780200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
21	chr1:212779600-212780200	Enhancers	Liver	Liver
22	chr1:212779600-212780200	Enhancers	Brain Angular Gyrus	brain
23	chr1:212779600-212780200	Weak transcription	Gastric	stomach
24	chr1:212779600-212780200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
25	chr1:212779600-212780200	Bivalent/Poised TSS	HUVEC	blood vessel
26	chr1:212779600-212780200	Bivalent Enhancer	NH-A	brain
27	chr1:212779600-212780400	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr1:212779600-212780800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
29	chr1:212779600-212781000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:212779600-212781200	Flanking Bivalent TSS/Enh	Hela-S3	cervix
31	chr1:212779600-212784000	Active TSS	Aorta	Aorta
32	chr1:212779800-212780200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
33	chr1:212779800-212780200	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:212779800-212780200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:212779800-212780200	Bivalent Enhancer	Fetal Kidney	kidney
36	chr1:212779800-212780200	Bivalent Enhancer	Fetal Stomach	stomach
37	chr1:212779800-212780400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
38	chr1:212779800-212780400	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
39	chr1:212779800-212780600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:212779800-212780600	Bivalent Enhancer	Fetal Brain Male	brain
41	chr1:212779800-212780800	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
42	chr1:212779800-212781400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
43	chr1:212779800-212781600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:212779800-212781600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
45	chr1:212779800-212781600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
46	chr1:212779800-212781600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
47	chr1:212779800-212781600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr1:212779800-212781800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
49	chr1:212779800-212783800	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr1:212779800-212785000	Active TSS	Pancreatic Islets	Pancreatic Islet

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