Variant report

Variant	rs10911847
Chromosome Location	chr1:186294577-186294578
allele	C/T
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	chr1:186294500-186294650	BE2_C	brain:	n/a	chr1:186294556-186294577
2	CTCF	chr1:186294456-186294603	HepG2	liver:	n/a	chr1:186294556-186294577
3	RAD21	chr1:186294264-186294826	HCT-116	colon:	n/a	chr1:186294559-186294578
4	CTCF	chr1:186294500-186294650	GM12869	blood:	n/a	chr1:186294556-186294577
5	YY1	chr1:186294516-186294738	SK-N-SH_RA	brain:	n/a	n/a
6	CTCF	chr1:186294460-186294610	Caco-2	colon:	n/a	chr1:186294556-186294577
7	ZNF143	chr1:186294533-186294594	GM12878	blood:	n/a	n/a
8	CTCF	chr1:186294440-186294590	GM12875	blood:	n/a	chr1:186294556-186294577
9	CTCF	chr1:186294460-186294610	HUVEC	blood vessel:	n/a	chr1:186294556-186294577
10	RAD21	chr1:186294388-186294726	Hela-S3	cervix:	n/a	chr1:186294559-186294578
11	CTCF	chr1:186294457-186294625	SK-N-SH_RA	brain:	n/a	chr1:186294556-186294577
12	CTCF	chr1:186294460-186294610	AG04450	lung:	n/a	chr1:186294556-186294577
13	CTCF	chr1:186294487-186294647	ProgFib	skin:	n/a	chr1:186294556-186294577
14	CTCF	chr1:186294500-186294650	HRE	kidney:	n/a	chr1:186294556-186294577
15	CTCF	chr1:186294451-186294693	Hela-S3	cervix:	n/a	chr1:186294556-186294577
16	CTCF	chr1:186294307-186294806	MCF-7	breast:	n/a	chr1:186294556-186294577
17	CTCF	chr1:186294480-186294630	AG04449	skin:	n/a	chr1:186294556-186294577
18	CTCF	chr1:186294460-186294610	HRE	kidney:	n/a	chr1:186294556-186294577
19	CTCF	chr1:186294480-186294630	GM12874	blood:	n/a	chr1:186294556-186294577
20	CTCF	chr1:186294500-186294650	GM12868	blood:	n/a	chr1:186294556-186294577
21	CTCF	chr1:186294387-186294749	GM12878	blood:	n/a	chr1:186294556-186294577
22	CTCF	chr1:186294499-186294616	NHEK	skin:	n/a	chr1:186294556-186294577
23	CTCF	chr1:186294357-186294680	K562	blood:	n/a	chr1:186294556-186294577
24	CTCF	chr1:186294500-186294650	NHLF	lung:	n/a	chr1:186294556-186294577
25	RAD21	chr1:186294385-186294733	IMR90	lung:	n/a	chr1:186294559-186294578
26	CTCF	chr1:186294460-186294610	GM06990	blood:	n/a	chr1:186294556-186294577
27	RAD21	chr1:186294335-186294798	HCT-116	colon:	n/a	chr1:186294559-186294578
28	CTCF	chr1:186294460-186294610	NHDF-neo	bronchial:	n/a	chr1:186294556-186294577
29	SMC3	chr1:186294432-186294681	GM12878	blood:	n/a	n/a
30	SMC3	chr1:186294396-186294717	K562	blood:	n/a	n/a
31	CTCF	chr1:186294520-186294670	HPF	lung:	n/a	chr1:186294556-186294577
32	RAD21	chr1:186294418-186294702	SK-N-SH_RA	brain:	n/a	chr1:186294559-186294578
33	SMC3	chr1:186294399-186294726	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr1:186294480-186294630	HMF	breast:	n/a	chr1:186294556-186294577
35	CTCF	chr1:186294500-186294650	HMEC	breast:	n/a	chr1:186294556-186294577
36	CTCF	chr1:186294460-186294610	WI-38	lung:	n/a	chr1:186294556-186294577
37	CTCF	chr1:186294440-186294590	NB4	blood:	n/a	chr1:186294556-186294577
38	ZNF143	chr1:186294429-186294610	K562	blood:	n/a	n/a
39	CTCF	chr1:186294391-186294761	K562	blood:	n/a	chr1:186294556-186294577
40	CTCF	chr1:186294460-186294610	HPAF	blood vessel:	n/a	chr1:186294556-186294577
41	CTCF	chr1:186294206-186294773	SK-N-SH	brain:	n/a	chr1:186294556-186294577
42	CTCF	chr1:186294460-186294610	HEEpiC	esophagus:	n/a	chr1:186294556-186294577
43	CTCF	chr1:186294520-186294670	GM12874	blood:	n/a	chr1:186294556-186294577
44	CTCF	chr1:186294500-186294650	Hela-S3	cervix:	n/a	chr1:186294556-186294577
45	RAD21	chr1:186294359-186294809	A549	lung:	n/a	chr1:186294559-186294578
46	CTCF	chr1:186294480-186294630	HPAF	blood vessel:	n/a	chr1:186294556-186294577
47	CTCF	chr1:186294506-186294630	HepG2	liver:	n/a	chr1:186294556-186294577
48	CTCF	chr1:186294500-186294650	HPF	lung:	n/a	chr1:186294556-186294577
49	CTCF	chr1:186294480-186294630	RPTEC	kidney:	n/a	chr1:186294556-186294577
50	CTCF	chr1:186294440-186294590	GM12870	blood:	n/a	chr1:186294556-186294577

No.	Distal block	Cell Line	Cell type
1	chr1:186293570..186295625-chr1:186311074..186313288,2	K562	blood:
2	chr1:186292652..186294761-chr1:186327186..186329585,2	K562	blood:
3	chr1:186274233..186274757-chr1:186294113..186294648,2	MCF-7	breast:

Variant related genes	Relation type
TPR	TF binding region
ENSG00000047410	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1003127	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10911849	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10911854	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10911858	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11582844	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12064371	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12069419	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12078527	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12082399	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12084264	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12085497	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12093440	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1547084	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17580052	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2037959	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2273779	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2383479	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2383480	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3737940	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3753564	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3753567	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61810289	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61810292	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61831150	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61831151	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7519719	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7539128	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][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	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186272000-186306000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:186277600-186295200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:186277600-186342600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:186277800-186297000	Strong transcription	Primary B cells from cord blood	blood
5	chr1:186278400-186342600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr1:186278800-186320400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:186279400-186295800	Strong transcription	A549	lung
8	chr1:186279400-186342400	Strong transcription	Fetal Thymus	thymus
9	chr1:186279600-186317600	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr1:186279600-186342400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:186280000-186317600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:186280000-186320200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:186280000-186340400	Strong transcription	Dnd41	blood
14	chr1:186280000-186342000	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr1:186280000-186342400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:186280000-186342400	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr1:186280000-186342400	Strong transcription	Osteobl	bone
18	chr1:186280000-186342600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:186280000-186342600	Strong transcription	HSMM	muscle
20	chr1:186280200-186295800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:186280200-186297200	Strong transcription	Stomach Smooth Muscle	stomach
22	chr1:186280200-186316800	Strong transcription	Placenta	Placenta
23	chr1:186280200-186342200	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr1:186280400-186317600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:186280400-186317600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:186280400-186342400	Strong transcription	Primary B cells from peripheral blood	blood
27	chr1:186280800-186342600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr1:186281000-186341800	Strong transcription	Liver	Liver
29	chr1:186281000-186342600	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr1:186281200-186295800	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr1:186281200-186297400	Strong transcription	NHDF-Ad	bronchial
32	chr1:186281200-186297600	Strong transcription	Fetal Intestine Large	intestine
33	chr1:186281200-186317600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:186281200-186317800	Strong transcription	HUVEC	blood vessel
35	chr1:186281200-186338200	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr1:186281200-186341400	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr1:186281200-186341800	Strong transcription	Adipose Nuclei	Adipose
38	chr1:186281200-186342200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr1:186281200-186342200	Strong transcription	NH-A	brain
40	chr1:186281400-186295600	Strong transcription	Fetal Lung	lung
41	chr1:186281400-186297600	Strong transcription	Fetal Muscle Trunk	muscle
42	chr1:186281400-186341600	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr1:186281400-186342000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:186281400-186342000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr1:186281400-186342000	Strong transcription	Duodenum Mucosa	Duodenum
46	chr1:186281400-186342200	Strong transcription	Hela-S3	cervix
47	chr1:186281400-186342400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:186281400-186342600	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr1:186281600-186297200	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr1:186281800-186335600	Strong transcription	HMEC	breast

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