Variant report

Variant	rs73102304
Chromosome Location	chr1:227505957-227505958
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	EP300	chr1:227505779-227506621	T-47D	breast:	n/a	chr1:227505812-227505828 chr1:227505813-227505829 chr1:227505901-227505910
2	POLR2A	chr1:227505289-227507173	ProgFib	skin:	n/a	n/a
3	RAD21	chr1:227505939-227507197	SK-N-SH_RA	brain:	n/a	chr1:227506361-227506375 chr1:227506403-227506417
4	SP1	chr1:227505785-227506405	A549	lung:	n/a	chr1:227506371-227506383 chr1:227506372-227506381 chr1:227506371-227506383 chr1:227505998-227506012
5	YY1	chr1:227505680-227506782	K562	blood:	n/a	chr1:227506189-227506199 chr1:227506496-227506510 chr1:227506456-227506470 chr1:227505900-227505911 chr1:227506042-227506053 chr1:227505902-227505916 chr1:227505852-227505861 chr1:227505902-227505911 chr1:227506184-227506200 chr1:227505905-227505914 chr1:227505905-227505919 chr1:227506177-227506199 chr1:227506403-227506417
6	TAF1	chr1:227505765-227506382	A549	lung:	n/a	n/a
7	POLR2A	chr1:227505698-227507213	U87	brain:	n/a	n/a
8	CCNT2	chr1:227505228-227506682	K562	blood:	n/a	chr1:227506372-227506381
9	TAF1	chr1:227505586-227506708	K562	blood:	n/a	n/a
10	MAX	chr1:227505869-227507296	MCF-7	breast:	n/a	n/a
11	MYC	chr1:227505894-227507287	K562	blood:	n/a	n/a
12	POLR2A	chr1:227505820-227507164	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr1:227505368-227507144	K562	blood:	n/a	n/a
14	HEY1	chr1:227505309-227507056	K562	blood:	n/a	chr1:227505900-227505915 chr1:227505654-227505669 chr1:227506721-227506736 chr1:227506549-227506564 chr1:227505897-227505912 chr1:227505819-227505834
15	ELF1	chr1:227505677-227506627	K562	blood:	n/a	chr1:227506013-227506022 chr1:227505902-227505911 chr1:227505697-227505709 chr1:227505897-227505909 chr1:227506497-227506509 chr1:227506509-227506521
16	POLR2A	chr1:227504780-227506688	Hela-S3	cervix:	n/a	n/a
17	FOXP2	chr1:227505821-227506677	PFSK-1	brain:	n/a	n/a
18	PML	chr1:227505769-227506612	K562	blood:	n/a	n/a
19	RAD21	chr1:227505950-227506262	SK-N-SH_RA	brain:	n/a	n/a
20	POLR2A	chr1:227505416-227507157	GM19193	blood:	n/a	n/a
21	POLR2A	chr1:227505848-227506553	HepG2	liver:	n/a	n/a
22	HA-E2F1	chr1:227505284-227506944	MCF-7	breast:	n/a	chr1:227505900-227505910 chr1:227505905-227505914 chr1:227505653-227505662 chr1:227505461-227505468 chr1:227505461-227505468 chr1:227505461-227505468
23	CREB1	chr1:227505788-227506720	A549	lung:	n/a	n/a
24	TAF1	chr1:227505741-227506281	ECC-1	luminal epithelium:	n/a	n/a
25	SIN3A	chr1:227504748-227507247	H1-hESC	embryonic stem cell:	n/a	chr1:227505012-227505021 chr1:227506503-227506512
26	TAF1	chr1:227505824-227506658	HepG2	liver:	n/a	n/a
27	CBX3	chr1:227505788-227507269	K562	blood:	n/a	n/a
28	POLR2A	chr1:227505787-227506488	PANC-1	pancreas:	n/a	n/a
29	ZBTB7A	chr1:227505329-227506982	K562	blood:	n/a	chr1:227505472-227505481 chr1:227505745-227505756 chr1:227506007-227506016 chr1:227505746-227505757
30	MYC	chr1:227505875-227506659	MCF10A-Er-Src	breast:	n/a	n/a
31	EP300	chr1:227505906-227506525	K562	blood:	n/a	n/a
32	POLR2A	chr1:227504718-227507432	MCF10A-Er-Src	breast:	n/a	n/a
33	TBL1XR1	chr1:227505868-227506140	K562	blood:	n/a	n/a
34	MAX	chr1:227505862-227506740	K562	blood:	n/a	n/a
35	TAF1	chr1:227505277-227507245	H1-hESC	embryonic stem cell:	n/a	n/a
36	TAF1	chr1:227505866-227506611	HepG2	liver:	n/a	n/a
37	MXI1	chr1:227505951-227506495	K562	blood:	n/a	n/a
38	JUND	chr1:227505840-227506593	A549	lung:	n/a	chr1:227505852-227505861
39	POLR2A	chr1:227505749-227506644	ECC-1	luminal epithelium:	n/a	n/a
40	HDAC2	chr1:227505836-227506802	MCF-7	breast:	n/a	n/a
41	POLR2A	chr1:227505771-227506677	GM18526	blood:	n/a	n/a
42	ZBTB7A	chr1:227505927-227506213	HepG2	liver:	n/a	chr1:227506007-227506016
43	CEBPB	chr1:227503465-227506205	Hela-S3	cervix:	n/a	chr1:227505283-227505294
44	TAF1	chr1:227505293-227507153	H1-hESC	embryonic stem cell:	n/a	n/a
45	MAFK	chr1:227505953-227506130	K562	blood:	n/a	n/a
46	EGR1	chr1:227505951-227506612	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr1:227505877-227506304	Hela-S3	cervix:	n/a	n/a
48	YY1	chr1:227505824-227507124	NT2-D1	testis:	n/a	chr1:227506189-227506199 chr1:227506496-227506510 chr1:227506456-227506470 chr1:227505900-227505911 chr1:227506042-227506053 chr1:227505902-227505916 chr1:227505852-227505861 chr1:227505902-227505911 chr1:227506184-227506200 chr1:227505905-227505914 chr1:227505905-227505919 chr1:227506177-227506199 chr1:227506403-227506417
49	MYC	chr1:227505854-227507170	K562	blood:	n/a	n/a
50	ZBTB7A	chr1:227505904-227506977	ECC-1	luminal epithelium:	n/a	chr1:227506007-227506016

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:227505910-227505960	NB4	blood:	n/a
2	chr1:227505916-227505966	HAEpiC	amniotic membrane:	n/a
3	chr1:227505916-227505966	ProgFib	skin:	n/a
4	chr1:227505916-227505966	PrEC	prostate:	n/a
5	chr1:227505910-227505960	HMEC	breast:	n/a
6	chr1:227505910-227505960	Hepatocyte	liver:	n/a
7	chr1:227505910-227505960	HCM	heart:	n/a
8	chr1:227505916-227505966	GM19239	blood:	n/a
9	chr1:227505910-227505960	PANC-1	pancreas:	n/a
10	chr1:227505916-227505966	SK-N-MC	brain:	n/a
11	chr1:227505910-227505960	HEK293	kidney:	embryo
12	chr1:227505910-227505960	HepG2	liver:	n/a
13	chr1:227505910-227505960	GM12891	blood:	n/a
14	chr1:227505916-227505966	T-47D	breast:	n/a
15	chr1:227505916-227505966	NH-A	brain:	n/a
16	chr1:227505910-227505960	MCF10A-Er-Src	breast:	n/a
17	chr1:227505910-227505960	SAEC	small airway:	n/a
18	chr1:227505916-227505966	HCT-116	colon:	n/a
19	chr1:227505916-227505966	K562	blood:	n/a
20	chr1:227505916-227505966	U87	brain:	n/a
21	chr1:227505910-227505960	BE2_C	brain:	n/a
22	chr1:227505916-227505966	PANC-1	pancreas:	n/a
23	chr1:227505916-227505966	HL-60	blood:	n/a
24	chr1:227505916-227505966	BJ	skin:	n/a
25	chr1:227505916-227505966	AG09319	gingival:	n/a
26	chr1:227505910-227505960	SK-N-SH	brain:	n/a
27	chr1:227505916-227505966	LNCaP	prostate:	n/a
28	chr1:227505910-227505960	GM12892	blood:	n/a
29	chr1:227505910-227505960	HRCEpiC	kidney:	n/a
30	chr1:227505910-227505960	HEEpiC	esophagus:	n/a
31	chr1:227505916-227505966	GM12891	blood:	n/a
32	chr1:227505916-227505966	NHBE	bronchial:	n/a
33	chr1:227505910-227505960	PFSK-1	brain:	n/a
34	chr1:227505910-227505960	GM06990	blood:	n/a
35	chr1:227505916-227505966	AG04450	lung:	fetal
36	chr1:227505916-227505966	HepG2	liver:	n/a
37	chr1:227505916-227505966	CMK	blood:	n/a
38	chr1:227505910-227505960	AG04449	skin:	fetal
39	chr1:227505910-227505960	AG09319	gingival:	n/a
40	chr1:227505916-227505966	GM12892	blood:	n/a
41	chr1:227505916-227505966	PFSK-1	brain:	n/a
42	chr1:227505910-227505960	NHDF-neo	bronchial:	n/a
43	chr1:227505910-227505960	HRPEpiC	eye:	n/a
44	chr1:227505910-227505960	PrEC	prostate:	n/a
45	chr1:227505910-227505960	GM12878	blood:	n/a
46	chr1:227505916-227505966	HRPEpiC	eye:	n/a
47	chr1:227505910-227505960	HNPCEpiC	eye:	n/a
48	chr1:227505916-227505966	HEK293	kidney:	embryo
49	chr1:227505916-227505966	NHDF-neo	bronchial:	n/a
50	chr1:227505916-227505966	AG09309	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:227505771..227506271-chr20:57464151..57464682,2	HCT-116	colon:
2	chr1:227505804..227506488-chr17:63052414..63052998,2	HCT-116	colon:
3	chr1:227365298..227367002-chr1:227505047..227506997,2	K562	blood:
4	chr1:227505566..227506340-chr10:95653162..95653749,2	HCT-116	colon:
5	chr1:227125150..227128196-chr1:227505421..227508280,4	MCF-7	breast:
6	chr1:227126362..227128612-chr1:227504788..227507568,2	MCF-7	breast:
7	chr1:227505582..227506201-chr3:119217404..119218268,2	Hela-S3	cervix:
8	chr1:227505349..227507259-chr17:61552926..61555906,2	MCF-7	breast:
9	chr1:227500962..227504758-chr1:227504964..227507747,3	MCF-7	breast:
10	chr1:227504778..227506670-chr1:227579538..227582289,3	K562	blood:
11	chr1:227504042..227507688-chr1:227616722..227620233,4	K562	blood:
12	chr1:227505544..227508414-chr1:227579779..227582450,2	MCF-7	breast:
13	chr1:227505302..227507077-chr1:227617949..227620450,2	MCF-7	breast:
14	chr1:227505645..227506241-chr4:122791074..122791739,2	Hela-S3	cervix:
15	chr1:227504778..227506536-chr1:227579859..227582289,2	K562	blood:

Variant related genes	Relation type
CDC42BPA	TF binding region
CDC42BPA	CpG island
ENSG00000159640	Chromatin interaction
ENSG00000228625	Chromatin interaction
ENSG00000113845	Chromatin interaction
ENSG00000120063	Chromatin interaction
ENSG00000242757	Chromatin interaction
ENSG00000261501	Chromatin interaction
ENSG00000143776	Chromatin interaction
ENSG00000176273	Chromatin interaction
ENSG00000138686	Chromatin interaction
ENSG00000087460	Chromatin interaction
ENSG00000163050	Chromatin interaction
ENSG00000234277	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11800447	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11806511	0.81[AFR][1000 genomes]
rs11807094	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11808962	1.00[AMR][1000 genomes]
rs11811100	0.87[AMR][1000 genomes]
rs12405363	0.81[AFR][1000 genomes]
rs16847249	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16847634	0.81[AFR][1000 genomes]
rs4300186	0.81[AFR][1000 genomes]
rs55882852	0.81[AFR][1000 genomes]
rs56352806	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56389454	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57454791	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57752854	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58594824	0.87[AMR][1000 genomes]
rs58912997	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59136460	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73092520	1.00[AMR][1000 genomes]
rs73092602	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73094331	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73094355	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73098394	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73100309	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102308	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102918	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74140155	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7525352	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
4	nsv873242	chr1:227371906-227579344	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv549271	chr1:227411003-227581017	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1001353	chr1:227474785-227660691	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	esv3390376	chr1:227505104-227507452	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227500800-227506600	Active TSS	K562	blood
2	chr1:227501400-227506800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:227501400-227507000	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr1:227501600-227507000	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr1:227501800-227506600	Active TSS	Fetal Stomach	stomach
6	chr1:227501800-227506600	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr1:227501800-227506600	Active TSS	HMEC	breast
8	chr1:227501800-227506600	Active TSS	NHEK	skin
9	chr1:227501800-227506800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:227501800-227506800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:227501800-227506800	Active TSS	Brain Anterior Caudate	brain
12	chr1:227501800-227506800	Active TSS	A549	lung
13	chr1:227501800-227506800	Active TSS	NHLF	lung
14	chr1:227501800-227507000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:227501800-227507000	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr1:227501800-227507000	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr1:227501800-227507000	Active TSS	Fetal Kidney	kidney
18	chr1:227501800-227507200	Active TSS	Duodenum Mucosa	Duodenum
19	chr1:227501800-227507200	Active TSS	NHDF-Ad	bronchial
20	chr1:227502000-227506600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:227502000-227506600	Active TSS	Muscle Satellite Cultured Cells	--
22	chr1:227502000-227506600	Active TSS	Colonic Mucosa	Colon
23	chr1:227502000-227506600	Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr1:227502000-227506600	Active TSS	HUVEC	blood vessel
25	chr1:227502000-227506800	Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr1:227502000-227506800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:227502000-227506800	Active TSS	Stomach Smooth Muscle	stomach
28	chr1:227502000-227506800	Active TSS	NH-A	brain
29	chr1:227502000-227507000	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr1:227502000-227507000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr1:227502000-227507000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:227502000-227507000	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr1:227502000-227507000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr1:227502000-227507000	Active TSS	Brain Angular Gyrus	brain
35	chr1:227502000-227507000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr1:227502000-227507000	Active TSS	Brain Substantia Nigra	brain
37	chr1:227502000-227507000	Active TSS	HSMMtube	muscle
38	chr1:227502000-227507200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:227502000-227507200	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr1:227502000-227507200	Active TSS	Psoas Muscle	Psoas
41	chr1:227502200-227506800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:227502200-227506800	Active TSS	Brain Cingulate Gyrus	brain
43	chr1:227502200-227506800	Active TSS	Fetal Muscle Leg	muscle
44	chr1:227502200-227507000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:227502200-227507200	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr1:227502200-227507600	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr1:227502400-227507000	Active TSS	H1 Cell Line	embryonic stem cell
48	chr1:227502600-227506600	Active TSS	HSMM	muscle
49	chr1:227502600-227506800	Active TSS	Brain Hippocampus Middle	brain
50	chr1:227502600-227507200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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