Variant report

Variant	rs2481085
Chromosome Location	chr1:160990906-160990907
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	CTCF	chr1:160990880-160991030	GM12872	blood:	n/a	chr1:160990949-160990967 chr1:160990949-160990962
2	BACH1	chr1:160990480-160991109	K562	blood:	n/a	n/a
3	TCF12	chr1:160990470-160991494	ECC-1	luminal epithelium:	n/a	chr1:160991067-160991074
4	ELF1	chr1:160990343-160991414	K562	blood:	n/a	chr1:160990968-160990980 chr1:160990975-160990987 chr1:160991278-160991291
5	NR2F2	chr1:160990337-160990969	K562	blood:	n/a	n/a
6	GATA3	chr1:160990385-160991033	T-47D	breast:	n/a	n/a
7	SP4	chr1:160990700-160991446	H1-hESC	embryonic stem cell:	n/a	chr1:160990973-160990984
8	HCFC1	chr1:160989958-160991512	K562	blood:	n/a	n/a
9	POLR2A	chr1:160990609-160991158	ProgFib	skin:	n/a	n/a
10	FOXM1	chr1:160990369-160991194	GM12878	blood:	n/a	n/a
11	CREB1	chr1:160990767-160991410	A549	lung:	n/a	n/a
12	POLR2A	chr1:160990409-160991516	NB4	blood:	n/a	n/a
13	IRF1	chr1:160990508-160991384	K562	blood:	n/a	chr1:160990991-160991000 chr1:160990971-160990985
14	MXI1	chr1:160990473-160991428	K562	blood:	n/a	n/a
15	POLR2A	chr1:160989504-160991557	K562	blood:	n/a	n/a
16	POLR2A	chr1:160990702-160990957	A549	lung:	n/a	n/a
17	POLR2A	chr1:160990289-160991978	Hela-S3	cervix:	n/a	n/a
18	HMGN3	chr1:160990328-160991358	K562	blood:	n/a	n/a
19	HA-E2F1	chr1:160990859-160991297	Hela-S3	cervix:	n/a	chr1:160990991-160991000 chr1:160991077-160991086 chr1:160991104-160991115 chr1:160991108-160991115
20	POLR2A	chr1:160990394-160991508	GM19099	blood:	n/a	n/a
21	RCOR1	chr1:160989466-160991806	K562	blood:	n/a	n/a
22	POLR2A	chr1:160989758-160991710	K562	blood:	n/a	n/a
23	CREB1	chr1:160990338-160991533	H1-hESC	embryonic stem cell:	n/a	n/a
24	RFX5	chr1:160990515-160991364	HepG2	liver:	n/a	chr1:160990990-160990999
25	ZC3H11A	chr1:160989982-160990908	K562	blood:	n/a	n/a
26	MAX	chr1:160990362-160991536	A549	lung:	n/a	chr1:160991078-160991088 chr1:160990974-160990984
27	MYC	chr1:160990831-160990968	MCF-7	breast:	n/a	n/a
28	MYC	chr1:160990489-160991432	MCF10A-Er-Src	breast:	n/a	chr1:160991078-160991088 chr1:160990974-160990984
29	SIN3A	chr1:160990274-160991321	GM12878	blood:	n/a	chr1:160990915-160990923
30	HEY1	chr1:160990245-160991526	K562	blood:	n/a	chr1:160990974-160990989
31	NFYA	chr1:160990331-160991439	K562	blood:	n/a	chr1:160990990-160991000 chr1:160990989-160991002
32	MAX	chr1:160990642-160991413	Hela-S3	cervix:	n/a	chr1:160991078-160991088 chr1:160990974-160990984
33	POLR2A	chr1:160990309-160991424	H1-hESC	embryonic stem cell:	n/a	n/a
34	E2F6	chr1:160990303-160991505	H1-hESC	embryonic stem cell:	n/a	chr1:160990991-160991000 chr1:160991077-160991086 chr1:160991104-160991115 chr1:160991108-160991115
35	NFATC1	chr1:160990369-160991310	GM12878	blood:	n/a	n/a
36	CTCF	chr1:160990295-160991196	K562	blood:	n/a	chr1:160990561-160990570 chr1:160990557-160990570 chr1:160990949-160990967 chr1:160990949-160990962
37	POLR2A	chr1:160990721-160990977	GM12891	blood:	n/a	n/a
38	MAX	chr1:160990471-160991388	GM12878	blood:	n/a	chr1:160991078-160991088 chr1:160990974-160990984
39	CEBPD	chr1:160989361-160991569	K562	blood:	n/a	n/a
40	FOXM1	chr1:160990150-160990960	GM12878	blood:	n/a	n/a
41	SP2	chr1:160990785-160991294	HepG2	liver:	n/a	chr1:160991024-160991047 chr1:160991002-160991017
42	POLR2A	chr1:160989702-160991901	MCF10A-Er-Src	breast:	n/a	n/a
43	RELA	chr1:160990383-160991476	GM15510	blood:	n/a	n/a
44	POLR2A	chr1:160990644-160991601	PANC-1	pancreas:	n/a	n/a
45	POLR2A	chr1:160990652-160991551	Hela-S3	cervix:	n/a	n/a
46	CEBPB	chr1:160990545-160991392	Hela-S3	cervix:	n/a	n/a
47	HA-E2F1	chr1:160990364-160991876	MCF-7	breast:	n/a	chr1:160990991-160991000 chr1:160991077-160991086 chr1:160991104-160991115 chr1:160991108-160991115
48	ZNF143	chr1:160990422-160990952	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr1:160990309-160991738	K562	blood:	n/a	n/a
50	PML	chr1:160990347-160991610	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:160989106..160992104-chr1:161101728..161103686,4	K562	blood:
2	chr1:160989693..160991522-chr1:161127596..161130418,2	MCF-7	breast:
3	chr1:160990808..160991668-chr11:85780243..85780839,2	HCT-116	colon:
4	chr1:160988929..160992185-chr1:161012707..161018170,8	MCF-7	breast:
5	chr1:160989498..160991645-chr1:161056781..161059472,2	MCF-7	breast:
6	chr1:160989661..160992673-chr1:161066595..161070388,4	K562	blood:
7	chr1:160988071..160992174-chr1:161007125..161014242,7	K562	blood:
8	chr1:160990576..160992373-chr1:161014612..161018487,6	K562	blood:
9	chr1:160989097..160992016-chr1:161278410..161280382,2	K562	blood:
10	chr1:160990813..160992339-chr17:57183553..57186254,2	MCF-7	breast:
11	chr1:160987801..160992609-chr1:161065993..161069595,4	MCF-7	breast:
12	chr1:160989787..160992592-chr1:161127591..161130267,2	K562	blood:
13	chr1:160989864..160992775-chr1:161169949..161172743,2	MCF-7	breast:
14	chr1:160989663..160992818-chr1:161011844..161017868,15	MCF-7	breast:
15	chr1:160988368..160992141-chr1:161085559..161090183,5	MCF-7	breast:
16	chr1:160990492..160992160-chr1:161130814..161132595,2	K562	blood:
17	chr1:160989721..160993044-chr1:161014364..161019082,7	K562	blood:
18	chr1:160638640..160640892-chr1:160989316..160991533,2	K562	blood:
19	chr1:45187018..45187769-chr1:160990629..160991569,2	NB4	blood:
20	chr1:160988859..160991431-chr1:161086289..161089011,2	K562	blood:
21	chr1:160989661..160992673-chr1:161067559..161070388,3	K562	blood:
22	chr1:160987861..160992104-chr1:161101436..161104060,5	K562	blood:
23	chr1:160990864..160991491-chr17:3571321..3572276,2	Hela-S3	cervix:
24	chr1:160989495..160995605-chr1:161004888..161010340,15	MCF-7	breast:
25	chr1:160990538..160991527-chr6:74230337..74231147,2	Hela-S3	cervix:
26	chr1:160988819..160994033-chr1:161005548..161011188,8	MCF-7	breast:
27	chr1:160989087..160991942-chr1:161007144..161014242,6	K562	blood:
28	chr1:160990711..160991608-chr1:161008481..161009243,2	MCF-7	breast:
29	chr1:160989601..160993379-chr1:161101301..161104263,5	MCF-7	breast:
30	chr1:160990569..160991458-chr6:86388051..86388956,2	HCT-116	colon:

Variant related genes	Relation type
F11R	TF binding region
ENSG00000158796	Chromatin interaction
ENSG00000162755	Chromatin interaction
ENSG00000213977	Chromatin interaction
ENSG00000143217	Chromatin interaction
ENSG00000158793	Chromatin interaction
ENSG00000127774	Chromatin interaction
ENSG00000108395	Chromatin interaction
ENSG00000143258	Chromatin interaction
ENSG00000156508	Chromatin interaction
ENSG00000073921	Chromatin interaction
ENSG00000215845	Chromatin interaction
ENSG00000158887	Chromatin interaction
ENSG00000143256	Chromatin interaction
ENSG00000224738	Chromatin interaction
ENSG00000158773	Chromatin interaction
ENSG00000224985	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000158864	Chromatin interaction
ENSG00000235101	Chromatin interaction
ENSG00000228863	Chromatin interaction
ENSG00000270149	Chromatin interaction
ENSG00000203875	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1044478	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1062826	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1062827	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11265540	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11265542	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11799478	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11799521	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11801586	0.84[AMR][1000 genomes]
rs11805856	0.83[AMR][1000 genomes]
rs11807930	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12401336	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12405782	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12408778	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12565932	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17388108	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1806774	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2073655	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2073656	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2073658	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2243427	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2247459	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2247596	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2247671	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2247790	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2251597	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2251728	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2297219	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2297220	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2297221	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2297222	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2481080	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2481081	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2481083	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2481084	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2483145	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2774274	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2988726	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3119321	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3737785	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3737787	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs41267947	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41267949	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41267951	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41269993	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4339888	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55728374	0.90[EUR][1000 genomes]
rs61802231	0.81[AMR][1000 genomes]
rs61803664	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61803665	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61803671	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61803672	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712854	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs812741	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs836	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs869985	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160984400-160991000	Weak transcription	HSMM	muscle
2	chr1:160988000-160992000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:160988400-160991800	Active TSS	H9 Cell Line	embryonic stem cell
4	chr1:160988400-160991800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:160988400-160991800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:160988600-160991200	Active TSS	Esophagus	oesophagus
7	chr1:160988600-160992000	Active TSS	H1 Cell Line	embryonic stem cell
8	chr1:160988600-160992200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:160988800-160991000	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr1:160988800-160991800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:160988800-160991800	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr1:160988800-160991800	Active TSS	Colonic Mucosa	Colon
13	chr1:160988800-160992000	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr1:160989000-160991400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:160989000-160991400	Active TSS	NHEK	skin
16	chr1:160989000-160991600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:160989000-160991800	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr1:160989000-160992000	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr1:160989000-160992000	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr1:160989200-160991800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:160989400-160991400	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr1:160989400-160991600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:160989400-160991600	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr1:160989400-160991600	Active TSS	Fetal Intestine Small	intestine
25	chr1:160989400-160991600	Active TSS	Right Atrium	heart
26	chr1:160989400-160991800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:160989600-160991000	Active TSS	Brain Substantia Nigra	brain
28	chr1:160989600-160991200	Active TSS	Brain Anterior Caudate	brain
29	chr1:160989600-160991400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:160989600-160991400	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr1:160989600-160991400	Active TSS	Stomach Mucosa	stomach
32	chr1:160989600-160991600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr1:160989600-160991600	Active TSS	A549	lung
34	chr1:160989600-160991800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr1:160989600-160991800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr1:160989800-160991000	Active TSS	Left Ventricle	heart
37	chr1:160989800-160991200	Active TSS	Small Intestine	intestine
38	chr1:160989800-160991200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
39	chr1:160989800-160991400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:160989800-160991400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:160989800-160991400	Active TSS	HMEC	breast
42	chr1:160989800-160991600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:160989800-160991600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:160989800-160991600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:160989800-160991600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:160989800-160991600	Flanking Active TSS	Fetal Thymus	thymus
47	chr1:160989800-160991600	Active TSS	Gastric	stomach
48	chr1:160989800-160991600	Active TSS	Ovary	ovary
49	chr1:160990000-160991000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:160990000-160991000	Active TSS	Brain Angular Gyrus	brain

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