Variant report

Variant	rs567818935
Chromosome Location	chr11:94277895-94277896
allele	C/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	POLR2A	chr11:94276828-94277941	MCF-7	breast:	n/a	n/a
2	MAX	chr11:94276463-94278246	HCT-116	colon:	n/a	chr11:94276987-94276997
3	MAZ	chr11:94276727-94278176	K562	blood:	n/a	chr11:94276987-94276997
4	CTCF	chr11:94277840-94277990	GM12875	blood:	n/a	n/a
5	MAX	chr11:94276783-94277944	GM12878	blood:	n/a	chr11:94276987-94276997
6	CTCF	chr11:94277860-94278010	NHEK	skin:	n/a	n/a
7	POLR2A	chr11:94276731-94278094	GM18526	blood:	n/a	n/a
8	TBP	chr11:94276825-94277950	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr11:94276324-94278276	GM19193	blood:	n/a	n/a
10	POLR2A	chr11:94276618-94277929	K562	blood:	n/a	n/a
11	ZEB1	chr11:94277656-94277922	GM12878	blood:	n/a	n/a
12	MAX	chr11:94276666-94278264	K562	blood:	n/a	chr11:94276987-94276997
13	POLR2A	chr11:94276533-94279695	HL-60	blood:	n/a	n/a
14	E2F6	chr11:94276833-94278318	K562	blood:	n/a	chr11:94277003-94277014 chr11:94277092-94277102
15	SIN3A	chr11:94276651-94278975	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr11:94277760-94277910	GM12872	blood:	n/a	n/a
17	TBP	chr11:94276737-94278119	K562	blood:	n/a	n/a
18	POLR2A	chr11:94276767-94278145	GM12892	blood:	n/a	n/a
19	BACH1	chr11:94277614-94277988	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr11:94277760-94277910	GM12874	blood:	n/a	n/a
21	CTCF	chr11:94277809-94277903	GM19238	blood:	n/a	n/a
22	HMGN3	chr11:94276810-94278323	K562	blood:	n/a	n/a
23	POLR2A	chr11:94276650-94278012	GM12892	blood:	n/a	n/a
24	E2F6	chr11:94276674-94278954	H1-hESC	embryonic stem cell:	n/a	chr11:94277003-94277014 chr11:94277092-94277102
25	CTCF	chr11:94277780-94277930	SAEC	small airway:	n/a	n/a
26	CTCF	chr11:94277880-94278030	GM12871	blood:	n/a	n/a
27	ZBTB7A	chr11:94277159-94278149	K562	blood:	n/a	chr11:94277243-94277254
28	CTCF	chr11:94277880-94278030	K562	blood:	n/a	n/a
29	POLR2A	chr11:94276812-94277961	GM10847	blood:	n/a	n/a
30	E2F6	chr11:94276749-94278232	K562	blood:	n/a	chr11:94277003-94277014 chr11:94277092-94277102
31	MYC	chr11:94276703-94278135	K562	blood:	n/a	chr11:94276987-94276997
32	ELF1	chr11:94276814-94278365	GM12878	blood:	n/a	chr11:94276988-94277000 chr11:94276959-94276971
33	POLR2A	chr11:94276872-94277919	IMR90	lung:	n/a	n/a
34	ZNF143	chr11:94276853-94278236	GM12878	blood:	n/a	n/a
35	YY1	chr11:94276813-94277925	K562	blood:	n/a	n/a
36	MAX	chr11:94276784-94278961	H1-hESC	embryonic stem cell:	n/a	chr11:94276987-94276997
37	CTCF	chr11:94277880-94278030	Caco-2	colon:	n/a	n/a
38	MAX	chr11:94276743-94277997	K562	blood:	n/a	chr11:94276987-94276997
39	MAX	chr11:94276554-94277920	A549	lung:	n/a	chr11:94276987-94276997
40	CTCF	chr11:94277860-94278010	GM12864	blood:	n/a	n/a
41	CTCF	chr11:94277860-94278010	GM12878	blood:	n/a	n/a
42	CREB1	chr11:94277432-94278019	H1-hESC	embryonic stem cell:	n/a	n/a
43	E2F6	chr11:94276724-94278872	H1-hESC	embryonic stem cell:	n/a	chr11:94277003-94277014 chr11:94277092-94277102
44	RCOR1	chr11:94276722-94277935	K562	blood:	n/a	n/a
45	CTCF	chr11:94277840-94277990	GM12867	blood:	n/a	n/a
46	MAZ	chr11:94276690-94278158	GM12878	blood:	n/a	chr11:94276987-94276997
47	EBF1	chr11:94277250-94277985	GM12878	blood:	n/a	n/a
48	CTCF	chr11:94277840-94277990	HUVEC	blood vessel:	n/a	n/a
49	CTCF	chr11:94277820-94277970	Caco-2	colon:	n/a	n/a
50	POLR2A	chr11:94276781-94277924	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:94277201..94277899-chr3:150421042..150421878,2	NB4	blood:
2	chr11:94277458..94279077-chr11:94299379..94301250,3	K562	blood:
3	chr11:94225466..94228271-chr11:94275709..94278301,3	K562	blood:
4	chr11:94226771..94229140-chr11:94275887..94279295,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MRE11A-3	chr11:94276131-94277949	NONHSAT023724

Variant related genes	Relation type
PIWIL4	TF binding region
ENSG00000240137	Chromatin interaction
ENSG00000134627	Chromatin interaction
ENSG00000020922	Chromatin interaction
ENSG00000163645	Chromatin interaction
ENSG00000168876	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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	esv3390466	chr11:94276729-94279277	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94276400-94279200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr11:94276400-94279200	Active TSS	Brain Substantia Nigra	brain
3	chr11:94276400-94279600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:94276400-94280000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr11:94276600-94278000	Active TSS	Right Ventricle	heart
6	chr11:94276600-94278200	Active TSS	Pancreas	Pancrea
7	chr11:94276600-94278200	Active TSS	Right Atrium	heart
8	chr11:94276600-94278200	Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr11:94276600-94278200	Active TSS	A549	lung
10	chr11:94276600-94278400	Active TSS	Fetal Brain Female	brain
11	chr11:94276600-94278600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:94276600-94278600	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr11:94276600-94278600	Active TSS	Psoas Muscle	Psoas
14	chr11:94276600-94278600	Active TSS	NHLF	lung
15	chr11:94276600-94279200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:94276600-94279200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:94276600-94279400	Active TSS	Hela-S3	cervix
18	chr11:94276600-94279600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
19	chr11:94276600-94279600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:94276600-94281000	Active TSS	Aorta	Aorta
21	chr11:94276800-94278000	Active TSS	H9 Cell Line	embryonic stem cell
22	chr11:94276800-94278000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:94276800-94278000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr11:94276800-94278000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr11:94276800-94278000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr11:94276800-94278000	Active TSS	Esophagus	oesophagus
27	chr11:94276800-94278000	Active TSS	Left Ventricle	heart
28	chr11:94276800-94278000	Active TSS	Stomach Smooth Muscle	stomach
29	chr11:94276800-94278000	Active TSS	Spleen	Spleen
30	chr11:94276800-94278200	Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr11:94276800-94278200	Active TSS	Fetal Lung	lung
32	chr11:94276800-94278200	Active TSS	Ovary	ovary
33	chr11:94276800-94278400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr11:94276800-94278400	Active TSS	Brain Angular Gyrus	brain
35	chr11:94276800-94278600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr11:94276800-94278600	Active TSS	Brain Anterior Caudate	brain
37	chr11:94276800-94278600	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr11:94276800-94278600	Active TSS	Fetal Intestine Small	intestine
39	chr11:94276800-94278600	Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr11:94276800-94279000	Active TSS	Colon Smooth Muscle	Colon
41	chr11:94276800-94279200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:94276800-94279200	Active TSS	Brain Hippocampus Middle	brain
43	chr11:94276800-94279200	Active TSS	NHDF-Ad	bronchial
44	chr11:94276800-94279400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:94276800-94279400	Active TSS	Small Intestine	intestine
46	chr11:94276800-94279600	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr11:94276800-94279600	Active TSS	HSMM	muscle
48	chr11:94276800-94279800	Active TSS	Brain Cingulate Gyrus	brain
49	chr11:94276800-94280000	Active TSS	Fetal Kidney	kidney
50	chr11:94276800-94280200	Active TSS	Gastric	stomach

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