Variant report

Variant	rs72911331
Chromosome Location	chr1:57286923-57286924
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	CTCF	chr1:57286800-57286950	HPAF	blood vessel:	n/a	chr1:57286891-57286900 chr1:57286880-57286901 chr1:57286886-57286902 chr1:57286885-57286903 chr1:57286887-57286900
2	CTCF	chr1:57286820-57286970	HA-sp	spinal cord:	n/a	chr1:57286891-57286900 chr1:57286880-57286901 chr1:57286886-57286902 chr1:57286885-57286903 chr1:57286887-57286900
3	RAD21	chr1:57286498-57287190	ECC-1	luminal epithelium:	n/a	chr1:57286887-57286901 chr1:57286883-57286902
4	RAD21	chr1:57286507-57287111	A549	lung:	n/a	chr1:57286887-57286901 chr1:57286883-57286902
5	CTCF	chr1:57286740-57287010	HAc	cerebellar:	n/a	chr1:57286891-57286900 chr1:57286880-57286901 chr1:57286886-57286902 chr1:57286885-57286903 chr1:57286887-57286900
6	MAZ	chr1:57286709-57287053	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr1:57286820-57286970	GM12868	blood:	n/a	chr1:57286891-57286900 chr1:57286880-57286901 chr1:57286886-57286902 chr1:57286885-57286903 chr1:57286887-57286900
8	CTCF	chr1:57286820-57286970	K562	blood:	n/a	chr1:57286891-57286900 chr1:57286880-57286901 chr1:57286886-57286902 chr1:57286885-57286903 chr1:57286887-57286900
9	RAD21	chr1:57286640-57287137	H1-hESC	embryonic stem cell:	n/a	chr1:57286887-57286901 chr1:57286883-57286902
10	ZNF263	chr1:57286507-57287227	HEK293-T-REx	kidney:	n/a	n/a
11	CTCF	chr1:57286738-57287054	GM12878	blood:	n/a	chr1:57286891-57286900 chr1:57286880-57286901 chr1:57286886-57286902 chr1:57286885-57286903 chr1:57286887-57286900
12	CTCF	chr1:57286677-57287105	K562	blood:	n/a	chr1:57286891-57286900 chr1:57286880-57286901 chr1:57286886-57286902 chr1:57286885-57286903 chr1:57286887-57286900
13	CTCF	chr1:57286732-57287055	NHEK	skin:	n/a	chr1:57286891-57286900 chr1:57286880-57286901 chr1:57286886-57286902 chr1:57286885-57286903 chr1:57286887-57286900
14	CTCF	chr1:57286765-57287044	ProgFib	skin:	n/a	chr1:57286891-57286900 chr1:57286880-57286901 chr1:57286886-57286902 chr1:57286885-57286903 chr1:57286887-57286900
15	CTCF	chr1:57286800-57286950	HBMEC	blood vessel:	n/a	chr1:57286891-57286900 chr1:57286880-57286901 chr1:57286886-57286902 chr1:57286885-57286903 chr1:57286887-57286900
16	RCOR1	chr1:57286725-57287039	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr1:57286755-57286956	A549	lung:	n/a	chr1:57286891-57286900 chr1:57286880-57286901 chr1:57286886-57286902 chr1:57286885-57286903 chr1:57286887-57286900
18	CTCF	chr1:57286768-57287036	Pancreas_OC	pancreas:	n/a	chr1:57286891-57286900 chr1:57286880-57286901 chr1:57286886-57286902 chr1:57286885-57286903 chr1:57286887-57286900
19	GATA3	chr1:57286697-57287064	T-47D	breast:	n/a	n/a
20	CTCF	chr1:57286665-57287120	HepG2	liver:	n/a	chr1:57286891-57286900 chr1:57286880-57286901 chr1:57286886-57286902 chr1:57286885-57286903 chr1:57286887-57286900
21	CTCF	chr1:57286773-57287044	HUVEC	blood vessel:	n/a	chr1:57286891-57286900 chr1:57286880-57286901 chr1:57286886-57286902 chr1:57286885-57286903 chr1:57286887-57286900
22	CTCF	chr1:57286800-57286950	HCFaa	heart:	n/a	chr1:57286891-57286900 chr1:57286880-57286901 chr1:57286886-57286902 chr1:57286885-57286903 chr1:57286887-57286900
23	CTCF	chr1:57286820-57286970	NHEK	skin:	n/a	chr1:57286891-57286900 chr1:57286880-57286901 chr1:57286886-57286902 chr1:57286885-57286903 chr1:57286887-57286900
24	RAD21	chr1:57286381-57287199	IMR90	lung:	n/a	chr1:57286887-57286901 chr1:57286883-57286902
25	CTCF	chr1:57286840-57286990	GM12864	blood:	n/a	chr1:57286891-57286900 chr1:57286880-57286901 chr1:57286886-57286902 chr1:57286885-57286903 chr1:57286887-57286900
26	CTCF	chr1:57286676-57287197	GM12878	blood:	n/a	chr1:57286891-57286900 chr1:57286880-57286901 chr1:57286886-57286902 chr1:57286885-57286903 chr1:57286887-57286900
27	WRNIP1	chr1:57286694-57287009	GM12878	blood:	n/a	n/a
28	CTCF	chr1:57286621-57287080	T-47D	breast:	n/a	chr1:57286891-57286900 chr1:57286880-57286901 chr1:57286886-57286902 chr1:57286885-57286903 chr1:57286887-57286900
29	RAD21	chr1:57286578-57287127	H1-hESC	embryonic stem cell:	n/a	chr1:57286887-57286901 chr1:57286883-57286902
30	RAD21	chr1:57286583-57287092	Hela-S3	cervix:	n/a	chr1:57286887-57286901 chr1:57286883-57286902
31	CTCF	chr1:57286739-57287034	Medullo	brain:	n/a	chr1:57286891-57286900 chr1:57286880-57286901 chr1:57286886-57286902 chr1:57286885-57286903 chr1:57286887-57286900
32	CTCF	chr1:57286820-57286970	HPF	lung:	n/a	chr1:57286891-57286900 chr1:57286880-57286901 chr1:57286886-57286902 chr1:57286885-57286903 chr1:57286887-57286900
33	CTCF	chr1:57286754-57286980	ECC-1	luminal epithelium:	n/a	chr1:57286891-57286900 chr1:57286880-57286901 chr1:57286886-57286902 chr1:57286885-57286903 chr1:57286887-57286900
34	KAP1	chr1:57286482-57287473	HEK293	kidney:	n/a	n/a
35	EGR1	chr1:57286794-57286971	GM12878	blood:	n/a	n/a
36	ZNF143	chr1:57286724-57287061	K562	blood:	n/a	n/a
37	ZNF143	chr1:57286721-57287034	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr1:57286840-57286990	K562	blood:	n/a	chr1:57286891-57286900 chr1:57286880-57286901 chr1:57286886-57286902 chr1:57286885-57286903 chr1:57286887-57286900
39	RAD21	chr1:57286590-57287078	A549	lung:	n/a	chr1:57286887-57286901 chr1:57286883-57286902
40	FOXA1	chr1:57286682-57287402	HepG2	liver:	n/a	chr1:57287285-57287300
41	RFX5	chr1:57286723-57287094	Hela-S3	cervix:	n/a	n/a
42	UBTF	chr1:57286695-57287002	K562	blood:	n/a	n/a
43	MAZ	chr1:57286750-57287033	GM12878	blood:	n/a	n/a
44	CTCF	chr1:57286900-57287050	HFF-Myc	foreskin:	n/a	n/a
45	CTCF	chr1:57286683-57286991	T-47D	breast:	n/a	chr1:57286891-57286900 chr1:57286880-57286901 chr1:57286886-57286902 chr1:57286885-57286903 chr1:57286887-57286900
46	CTCF	chr1:57286664-57287056	H1-hESC	embryonic stem cell:	n/a	chr1:57286891-57286900 chr1:57286880-57286901 chr1:57286886-57286902 chr1:57286885-57286903 chr1:57286887-57286900
47	FOXA1	chr1:57286903-57287448	HepG2	liver:	n/a	chr1:57287285-57287300
48	CTCF	chr1:57286840-57286990	MCF-7	breast:	n/a	chr1:57286891-57286900 chr1:57286880-57286901 chr1:57286886-57286902 chr1:57286885-57286903 chr1:57286887-57286900
49	CTCF	chr1:57286820-57286970	AG04450	lung:	n/a	chr1:57286891-57286900 chr1:57286880-57286901 chr1:57286886-57286902 chr1:57286885-57286903 chr1:57286887-57286900
50	CTCF	chr1:57286840-57286990	GM12869	blood:	n/a	chr1:57286891-57286900 chr1:57286880-57286901 chr1:57286886-57286902 chr1:57286885-57286903 chr1:57286887-57286900

No.	Distal block	Cell Line	Cell type
1	chr1:57223668..57224373-chr1:57286460..57287064,2	MCF-7	breast:
2	chr1:55944502..55945079-chr1:57286734..57287351,2	K562	blood:
3	chr1:55750859..55751393-chr1:57286508..57287121,2	K562	blood:
4	chr1:57050265..57050916-chr1:57286447..57287375,2	MCF-7	breast:
5	chr1:57223706..57224388-chr1:57286202..57287274,3	MCF-7	breast:

Variant related genes	Relation type
C1orf168	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11206926	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11206928	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11585758	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12083976	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17114400	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17114419	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17114421	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60932560	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6588652	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6588653	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6673223	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6694438	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72911335	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7523601	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7536170	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7536567	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7548156	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs947636	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57281800-57287600	Enhancers	Fetal Intestine Small	intestine
2	chr1:57283000-57287200	Enhancers	Placenta	Placenta
3	chr1:57283400-57287200	Enhancers	Esophagus	oesophagus
4	chr1:57283800-57287400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr1:57284200-57287200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:57285200-57287200	Enhancers	Fetal Intestine Large	intestine
7	chr1:57285400-57287200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr1:57285400-57289000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:57285400-57305400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:57285600-57287200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr1:57285600-57287200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr1:57285600-57287200	Enhancers	Liver	Liver
13	chr1:57286000-57287400	Enhancers	Right Atrium	heart
14	chr1:57286200-57287000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:57286200-57287200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr1:57286200-57287200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:57286200-57287600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:57286200-57287600	Enhancers	Fetal Heart	heart
19	chr1:57286200-57287600	Enhancers	Stomach Mucosa	stomach
20	chr1:57286400-57287000	Enhancers	Stomach Smooth Muscle	stomach
21	chr1:57286400-57287000	Enhancers	NHDF-Ad	bronchial
22	chr1:57286400-57287000	Enhancers	NHLF	lung
23	chr1:57286400-57287200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr1:57286400-57287200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:57286400-57287200	Enhancers	A549	lung
26	chr1:57286400-57287400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:57286600-57287000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:57286600-57287000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
29	chr1:57286600-57287000	Enhancers	Adipose Nuclei	Adipose
30	chr1:57286600-57287000	Enhancers	Duodenum Mucosa	Duodenum
31	chr1:57286600-57287000	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr1:57286600-57287000	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr1:57286600-57287200	Enhancers	H1 Cell Line	embryonic stem cell
34	chr1:57286600-57287200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:57286600-57287200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:57286600-57287200	Enhancers	H9 Cell Line	embryonic stem cell
37	chr1:57286600-57287200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:57286600-57287200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
39	chr1:57286600-57287200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr1:57286600-57287200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:57286600-57287200	Enhancers	Colon Smooth Muscle	Colon
42	chr1:57286600-57287200	Bivalent Enhancer	Fetal Muscle Leg	muscle
43	chr1:57286600-57287200	Bivalent Enhancer	Fetal Stomach	stomach
44	chr1:57286600-57287200	Enhancers	Gastric	stomach
45	chr1:57286600-57287200	Enhancers	Left Ventricle	heart
46	chr1:57286600-57287200	Enhancers	Rectal Smooth Muscle	rectum
47	chr1:57286600-57287200	Enhancers	NH-A	brain
48	chr1:57286600-57287400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:57286600-57287400	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr1:57286600-57287400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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