Variant report

Variant	rs4282830
Chromosome Location	chr1:222911960-222911961
allele	G/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	chr1:222911940-222912090	HUVEC	blood vessel:	n/a	n/a
2	BHLHE40	chr1:222911818-222912300	GM12878	blood:	n/a	n/a
3	RAD21	chr1:222911923-222912480	MCF-7	breast:	n/a	chr1:222912201-222912220
4	CTCF	chr1:222911945-222912439	T-47D	breast:	n/a	chr1:222912202-222912223 chr1:222912200-222912218
5	RAD21	chr1:222911943-222912451	A549	lung:	n/a	chr1:222912201-222912220
6	SMC3	chr1:222911895-222912631	SK-N-SH	brain:	n/a	n/a
7	RAD21	chr1:222911945-222912521	ECC-1	luminal epithelium:	n/a	chr1:222912201-222912220
8	RAD21	chr1:222911951-222912571	A549	lung:	n/a	chr1:222912201-222912220
9	CTCF	chr1:222911901-222912011	GM19240	blood:	n/a	n/a
10	CTCF	chr1:222911790-222912654	SK-N-SH	brain:	n/a	chr1:222912202-222912223 chr1:222912200-222912218
11	CTCF	chr1:222911930-222912546	HCT-116	colon:	n/a	chr1:222912202-222912223 chr1:222912200-222912218
12	CTCF	chr1:222911832-222912754	A549	lung:	n/a	chr1:222912202-222912223 chr1:222912200-222912218
13	CTCF	chr1:222911940-222912090	BJ	skin:	n/a	n/a
14	RAD21	chr1:222911848-222912625	SK-N-SH	brain:	n/a	chr1:222912201-222912220
15	RAD21	chr1:222911957-222912447	HCT-116	colon:	n/a	chr1:222912201-222912220
16	RAD21	chr1:222911960-222912455	MCF-7	breast:	n/a	chr1:222912201-222912220

No.	Distal block	Cell Line	Cell type
1	chr1:222911724..222912509-chr1:223254559..223255351,3	MCF-7	breast:
2	chr1:222910920..222912840-chr1:222920174..222922216,2	K562	blood:
3	chr1:222911799..222912469-chr1:223254817..223255405,2	K562	blood:
4	chr1:222911650..222912270-chr1:223254482..223255291,2	MCF-7	breast:

Variant related genes	Relation type
FAM177B	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1133220	0.87[ASN][1000 genomes]
rs12043288	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12138316	0.80[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12749296	0.90[EUR][1000 genomes]
rs17011666	0.83[ASN][1000 genomes]
rs17011681	0.85[ASN][1000 genomes]
rs17163313	0.83[ASN][1000 genomes]
rs17163345	0.84[ASN][1000 genomes]
rs17163358	0.84[ASN][1000 genomes]
rs17163360	0.84[ASN][1000 genomes]
rs17163363	0.85[ASN][1000 genomes]
rs17465940	0.81[ASN][1000 genomes]
rs17465982	0.82[ASN][1000 genomes]
rs17532708	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1909195	0.81[ASN][1000 genomes]
rs2068814	0.91[EUR][1000 genomes]
rs2133187	0.84[ASN][1000 genomes]
rs2133189	0.84[ASN][1000 genomes]
rs2270707	0.81[ASN][1000 genomes]
rs2291832	0.85[ASN][1000 genomes]
rs2291834	0.85[ASN][1000 genomes]
rs2378603	0.86[EUR][1000 genomes]
rs2378607	0.92[EUR][1000 genomes]
rs28654270	0.86[EUR][1000 genomes]
rs28765200	0.85[EUR][1000 genomes]
rs34032254	0.92[ASN][1000 genomes]
rs34885880	0.91[EUR][1000 genomes]
rs35158675	0.83[ASN][1000 genomes]
rs35175385	0.92[ASN][1000 genomes]
rs35300015	0.86[EUR][1000 genomes]
rs35626308	0.83[ASN][1000 genomes]
rs35700460	0.84[ASN][1000 genomes]
rs35725247	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3748626	0.83[ASN][1000 genomes]
rs4575092	0.87[ASN][1000 genomes]
rs4846384	0.82[ASN][1000 genomes]
rs61824331	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61825253	0.87[EUR][1000 genomes]
rs61825254	0.87[EUR][1000 genomes]
rs61825258	0.83[EUR][1000 genomes]
rs61825259	0.87[EUR][1000 genomes]
rs6700083	0.85[EUR][1000 genomes]
rs67180937	0.85[ASN][1000 genomes]
rs71524942	0.95[AFR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873205	chr1:222718718-222923351	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222887400-222912000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:222887600-222912400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:222903400-222912200	Weak transcription	NHEK	skin
4	chr1:222904000-222912800	Weak transcription	Esophagus	oesophagus
5	chr1:222904600-222912800	Weak transcription	Ovary	ovary
6	chr1:222906200-222914000	Weak transcription	K562	blood
7	chr1:222907600-222913400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:222908200-222913200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr1:222908400-222912000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:222908600-222912000	Weak transcription	NHDF-Ad	bronchial
11	chr1:222908800-222912200	Weak transcription	Brain Anterior Caudate	brain
12	chr1:222908800-222912200	Weak transcription	Dnd41	blood
13	chr1:222908800-222915600	Weak transcription	GM12878-XiMat	blood
14	chr1:222909000-222912000	Weak transcription	Fetal Muscle Leg	muscle
15	chr1:222909000-222912200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr1:222909000-222912800	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr1:222909200-222912000	Weak transcription	Colon Smooth Muscle	Colon
18	chr1:222909200-222912200	Weak transcription	Fetal Brain Female	brain
19	chr1:222909200-222912400	Weak transcription	Fetal Lung	lung
20	chr1:222909400-222912200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:222909800-222912200	Weak transcription	HSMMtube	muscle
22	chr1:222910000-222912200	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr1:222910000-222912200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr1:222910000-222912200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr1:222910000-222912200	Weak transcription	Spleen	Spleen
26	chr1:222910000-222912800	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr1:222910000-222916800	Weak transcription	Fetal Intestine Large	intestine
28	chr1:222910200-222912000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:222910200-222912000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr1:222910200-222912000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr1:222910200-222912000	Weak transcription	Right Ventricle	heart
32	chr1:222910200-222912200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:222910200-222912200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:222910200-222912200	Weak transcription	Placenta	Placenta
35	chr1:222910200-222912200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr1:222910200-222912400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr1:222910200-222912400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:222910200-222912600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:222910200-222913000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:222910200-222913000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr1:222910200-222918200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr1:222910400-222912600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:222910400-222912600	Weak transcription	Fetal Thymus	thymus
44	chr1:222910400-222912800	Weak transcription	Aorta	Aorta
45	chr1:222910400-222913200	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr1:222910600-222912600	Weak transcription	Adipose Nuclei	Adipose
47	chr1:222910600-222913000	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr1:222910800-222912400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr1:222910800-222914400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr1:222910800-222915200	Weak transcription	Monocytes-CD14+_RO01746	blood

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