Variant report

Variant	rs11118834
Chromosome Location	chr1:221887835-221887836
allele	A/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	MAX	chr1:221887615-221887991	K562	blood:	n/a	n/a
2	USF1	chr1:221887554-221887962	K562	blood:	n/a	n/a
3	YY1	chr1:221887625-221888066	K562	blood:	n/a	chr1:221887776-221887788
4	YY1	chr1:221887613-221887867	GM12892	blood:	n/a	chr1:221887776-221887788
5	MYC	chr1:221887533-221888223	K562	blood:	n/a	n/a
6	E2F6	chr1:221887692-221887940	K562	blood:	n/a	n/a
7	POU2F2	chr1:221887652-221888035	GM12891	blood:	n/a	chr1:221887859-221887872
8	TBP	chr1:221887751-221888217	K562	blood:	n/a	n/a
9	YY1	chr1:221887612-221888011	GM12892	blood:	n/a	chr1:221887776-221887788
10	YY1	chr1:221887553-221887997	H1-hESC	embryonic stem cell:	n/a	chr1:221887776-221887788
11	YY1	chr1:221887728-221887890	K562	blood:	n/a	chr1:221887776-221887788
12	YY1	chr1:221887561-221888013	ECC-1	luminal epithelium:	n/a	chr1:221887776-221887788
13	YY1	chr1:221887603-221888124	H1-hESC	embryonic stem cell:	n/a	chr1:221887776-221887788
14	POLR2A	chr1:221887662-221888342	K562	blood:	n/a	n/a
15	POLR2A	chr1:221887629-221888404	K562	blood:	n/a	n/a
16	MYC	chr1:221887328-221888225	K562	blood:	n/a	n/a
17	MAX	chr1:221887605-221888113	H1-hESC	embryonic stem cell:	n/a	n/a
18	BHLHE40	chr1:221887609-221888065	K562	blood:	n/a	n/a
19	MAX	chr1:221887604-221888068	K562	blood:	n/a	n/a
20	USF1	chr1:221887649-221887976	K562	blood:	n/a	n/a
21	TBL1XR1	chr1:221887296-221888159	K562	blood:	n/a	n/a
22	PML	chr1:221887776-221888205	K562	blood:	n/a	n/a
23	TEAD4	chr1:221887380-221888235	K562	blood:	n/a	n/a
24	POLR2A	chr1:221887597-221888314	GM12878	blood:	n/a	n/a
25	EP300	chr1:221887704-221888200	K562	blood:	n/a	n/a
26	MYC	chr1:221887625-221888009	K562	blood:	n/a	n/a
27	POLR2A	chr1:221887668-221888244	K562	blood:	n/a	n/a
28	MYC	chr1:221887783-221887959	H1-hESC	embryonic stem cell:	n/a	n/a
29	CBX3	chr1:221887570-221888292	K562	blood:	n/a	n/a
30	YY1	chr1:221887547-221887929	GM12878	blood:	n/a	chr1:221887776-221887788
31	MYC	chr1:221887588-221888073	K562	blood:	n/a	n/a
32	RCOR1	chr1:221887785-221888037	K562	blood:	n/a	n/a
33	MAZ	chr1:221887672-221888256	K562	blood:	n/a	n/a
34	ZC3H11A	chr1:221887511-221887851	K562	blood:	n/a	n/a
35	HCFC1	chr1:221887644-221888000	K562	blood:	n/a	n/a
36	YY1	chr1:221887598-221887973	GM12878	blood:	n/a	chr1:221887776-221887788
37	YY1	chr1:221887622-221888041	K562	blood:	n/a	chr1:221887776-221887788
38	POLR2A	chr1:221885201-221889107	K562	blood:	n/a	n/a
39	MAX	chr1:221887597-221888053	ECC-1	luminal epithelium:	n/a	n/a
40	YY1	chr1:221887630-221888013	ECC-1	luminal epithelium:	n/a	chr1:221887776-221887788
41	YY1	chr1:221887606-221888032	K562	blood:	n/a	chr1:221887776-221887788
42	JUND	chr1:221887633-221888234	K562	blood:	n/a	n/a
43	MYC	chr1:221887563-221888026	K562	blood:	n/a	n/a
44	YY1	chr1:221887634-221887935	A549	lung:	n/a	chr1:221887776-221887788
45	MAX	chr1:221887627-221887988	ECC-1	luminal epithelium:	n/a	n/a
46	MAX	chr1:221887626-221887961	K562	blood:	n/a	n/a
47	ATF1	chr1:221887541-221888069	K562	blood:	n/a	n/a
48	YY1	chr1:221887623-221887900	GM12891	blood:	n/a	chr1:221887776-221887788
49	TEAD4	chr1:221887608-221887991	K562	blood:	n/a	n/a
50	MYC	chr1:221887574-221888148	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:221887523..221889150-chr1:221891043..221892989,2	MCF-7	breast:
2	chr1:221886064..221888475-chr1:221888570..221891136,3	K562	blood:
3	chr1:221887650..221891571-chr1:221892438..221898117,9	K562	blood:
4	chr1:221882652..221891989-chr1:221912814..221917285,15	K562	blood:
5	chr1:221886657..221890286-chr1:221915663..221918002,3	MCF-7	breast:

Variant related genes	Relation type
DUSP10	TF binding region
ENSG00000143507	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11118831	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67717154	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7541733	0.81[ASN][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	nsv469786	chr1:221855871-222040335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482867	chr1:221855871-222040335	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv1007092	chr1:221883491-221958279	Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv535303	chr1:221883491-221958279	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221863800-221888600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:221875400-221889600	Weak transcription	Fetal Kidney	kidney
3	chr1:221877400-221889200	Weak transcription	Colonic Mucosa	Colon
4	chr1:221879600-221891000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr1:221879600-221891800	Enhancers	Fetal Thymus	thymus
6	chr1:221879600-221902400	Enhancers	Brain Substantia Nigra	brain
7	chr1:221879800-221889000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr1:221879800-221889600	Weak transcription	Esophagus	oesophagus
9	chr1:221879800-221890200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:221879800-221890200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr1:221879800-221896800	Enhancers	Colon Smooth Muscle	Colon
12	chr1:221880000-221889600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr1:221880200-221889200	Weak transcription	Right Atrium	heart
14	chr1:221880400-221893200	Enhancers	Primary hematopoietic stem cells	blood
15	chr1:221881000-221888600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:221881400-221888200	Enhancers	HepG2	liver
17	chr1:221881800-221888600	Weak transcription	Placenta	Placenta
18	chr1:221882600-221893400	Enhancers	Brain Cingulate Gyrus	brain
19	chr1:221882800-221899000	Genic enhancers	HSMM	muscle
20	chr1:221883000-221888600	Weak transcription	Fetal Intestine Large	intestine
21	chr1:221883000-221888600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr1:221883000-221889600	Weak transcription	Right Ventricle	heart
23	chr1:221883400-221889600	Weak transcription	Left Ventricle	heart
24	chr1:221883800-221890000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr1:221884200-221889000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr1:221884400-221888000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr1:221884600-221888800	Weak transcription	Brain Germinal Matrix	brain
28	chr1:221884600-221891600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:221884800-221888000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:221884800-221896200	Enhancers	Rectal Smooth Muscle	rectum
31	chr1:221885200-221888800	Weak transcription	Fetal Brain Female	brain
32	chr1:221885400-221888600	Weak transcription	Fetal Muscle Leg	muscle
33	chr1:221885800-221892200	Enhancers	NHDF-Ad	bronchial
34	chr1:221886000-221888600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr1:221886000-221895200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:221886200-221888000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:221886200-221896000	Weak transcription	NHEK	skin
38	chr1:221886400-221888000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr1:221886400-221888400	Weak transcription	Stomach Mucosa	stomach
40	chr1:221886600-221888000	Weak transcription	Fetal Lung	lung
41	chr1:221886600-221888400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:221886600-221888400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr1:221886600-221888600	Weak transcription	NHLF	lung
44	chr1:221886600-221888600	Weak transcription	Osteobl	bone
45	chr1:221886600-221889200	Weak transcription	Small Intestine	intestine
46	chr1:221886600-221889600	Weak transcription	Gastric	stomach
47	chr1:221886600-221889800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:221886600-221890600	Weak transcription	Adipose Nuclei	Adipose
49	chr1:221886600-221891600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:221886600-221891600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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