Variant report

Variant	rs575651109
Chromosome Location	chr11:9595957-9595958
allele	A/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	UBTF	chr11:9594411-9597195	K562	blood:	n/a	n/a
2	TAF1	chr11:9594283-9595978	ECC-1	luminal epithelium:	n/a	n/a
3	MAX	chr11:9594224-9596603	GM12878	blood:	n/a	chr11:9594393-9594404 chr11:9594393-9594403 chr11:9595186-9595197 chr11:9595186-9595197 chr11:9595391-9595400 chr11:9594394-9594403 chr11:9595391-9595400 chr11:9594395-9594402 chr11:9594390-9594405 chr11:9595188-9595197 chr11:9594392-9594407 chr11:9595392-9595399
4	TAF7	chr11:9594545-9597218	H1-hESC	embryonic stem cell:	n/a	n/a
5	MXI1	chr11:9593222-9598393	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr11:9595813-9597130	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr11:9594287-9597716	PBDE	blood:	n/a	n/a
8	POLR2A	chr11:9593829-9601404	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr11:9593092-9599445	IMR90	lung:	n/a	n/a
10	ZNF263	chr11:9595069-9597666	HEK293-T-REx	kidney:	n/a	chr11:9597038-9597047
11	SIN3AK20	chr11:9593713-9597257	PANC-1	pancreas:	n/a	n/a
12	UBTF	chr11:9594271-9597345	K562	blood:	n/a	n/a
13	CCNT2	chr11:9594469-9596913	K562	blood:	n/a	n/a
14	POLR2A	chr11:9594243-9596697	ECC-1	luminal epithelium:	n/a	n/a
15	ELF1	chr11:9595694-9596087	K562	blood:	n/a	chr11:9595873-9595886
16	POLR2A	chr11:9594379-9596736	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr11:9594220-9597525	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr11:9594275-9597204	GM12892	blood:	n/a	n/a
19	MAX	chr11:9594229-9597239	Hela-S3	cervix:	n/a	chr11:9594393-9594404 chr11:9594393-9594403 chr11:9595186-9595197 chr11:9595186-9595197 chr11:9595391-9595400 chr11:9594394-9594403 chr11:9595391-9595400 chr11:9594395-9594402 chr11:9594390-9594405 chr11:9595188-9595197 chr11:9594392-9594407 chr11:9595392-9595399
20	POLR2A	chr11:9594248-9597207	Hela-S3	cervix:	n/a	n/a
21	CHD1	chr11:9594023-9600398	IMR90	lung:	n/a	chr11:9596149-9596159
22	TAF1	chr11:9594350-9596258	K562	blood:	n/a	n/a
23	POLR2A	chr11:9593721-9599676	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr11:9595917-9596372	HCT-116	colon:	n/a	n/a
25	POLR2A	chr11:9595705-9597393	SK-N-MC	brain:	n/a	n/a
26	ZNF263	chr11:9594519-9596015	K562	blood:	n/a	chr11:9594593-9594602
27	POLR2A	chr11:9594391-9597025	GM18951	blood:	n/a	n/a
28	POLR2A	chr11:9592789-9600461	MCF10A-Er-Src	breast:	n/a	n/a
29	SIN3AK20	chr11:9595956-9596590	K562	blood:	n/a	n/a
30	MAX	chr11:9594190-9596049	ECC-1	luminal epithelium:	n/a	chr11:9594393-9594404 chr11:9594393-9594403 chr11:9595186-9595197 chr11:9595186-9595197 chr11:9595391-9595400 chr11:9594394-9594403 chr11:9595391-9595400 chr11:9594395-9594402 chr11:9594390-9594405 chr11:9595188-9595197 chr11:9594392-9594407 chr11:9595392-9595399
31	ELF1	chr11:9595667-9596040	K562	blood:	n/a	chr11:9595873-9595886
32	HCFC1	chr11:9594040-9598791	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr11:9594240-9597630	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr11:9595942-9597602	HUVEC	blood vessel:	n/a	n/a
35	YY1	chr11:9595658-9596523	HepG2	liver:	n/a	chr11:9596171-9596180 chr11:9596468-9596477
36	MAX	chr11:9594200-9595986	HepG2	liver:	n/a	chr11:9594393-9594404 chr11:9594393-9594403 chr11:9595186-9595197 chr11:9595186-9595197 chr11:9595391-9595400 chr11:9594394-9594403 chr11:9595391-9595400 chr11:9594395-9594402 chr11:9594390-9594405 chr11:9595188-9595197 chr11:9594392-9594407 chr11:9595392-9595399
37	TFAP2C	chr11:9594507-9596399	Hela-S3	cervix:	n/a	chr11:9594730-9594745
38	POLR2A	chr11:9595712-9596075	A549	lung:	n/a	n/a
39	POLR2A	chr11:9594250-9597189	GM12892	blood:	n/a	n/a
40	POLR2A	chr11:9595928-9597917	U87	brain:	n/a	n/a
41	POLR2A	chr11:9593649-9597149	K562	blood:	n/a	n/a
42	POLR2A	chr11:9594279-9597121	Raji	blood:	n/a	n/a
43	TAF1	chr11:9594352-9596173	HepG2	liver:	n/a	n/a
44	TCF7L2	chr11:9594525-9596494	HCT-116	colon:	n/a	n/a
45	POLR2A	chr11:9594407-9597094	GM19099	blood:	n/a	n/a
46	POLR2A	chr11:9594229-9597265	K562	blood:	n/a	n/a
47	POLR2A	chr11:9594296-9596150	A549	lung:	n/a	n/a
48	MXI1	chr11:9594119-9597242	IMR90	lung:	n/a	n/a
49	POLR2A	chr11:9594274-9597098	HL-60	blood:	n/a	n/a
50	HMGN3	chr11:9594409-9596500	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:9112943..9114701-chr11:9593377..9596594,3	MCF-7	breast:
2	chr11:9594244..9596039-chr11:9777459..9779743,2	MCF-7	breast:
3	chr11:9479099..9485582-chr11:9593306..9599058,18	K562	blood:
4	chr1:234744714..234746851-chr11:9594601..9596102,2	MCF-7	breast:
5	chr11:9595265..9597236-chr11:9601549..9603655,2	MCF-7	breast:
6	chr11:9482310..9483015-chr11:9594999..9595996,2	Hela-S3	cervix:
7	chr11:9593380..9601954-chr11:9626466..9639393,32	K562	blood:
8	chr11:9481508..9485106-chr11:9595203..9601095,6	MCF-7	breast:
9	chr11:9478618..9485582-chr11:9593299..9599536,13	K562	blood:
10	chr11:9594508..9596451-chr11:10325420..10327263,2	MCF-7	breast:
11	chr11:9480226..9484903-chr11:9591788..9598525,12	MCF-7	breast:

Variant related genes	Relation type
WEE1	TF binding region
ENSG00000238387	TF binding region
ENSG00000166478	Chromatin interaction
ENSG00000243869	Chromatin interaction
ENSG00000166483	Chromatin interaction
ENSG00000148926	Chromatin interaction
ENSG00000245522	Chromatin interaction
ENSG00000268403	Chromatin interaction
ENSG00000243964	Chromatin interaction
ENSG00000168264	Chromatin interaction
ENSG00000175356	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	nsv427882	chr11:9431600-9626580	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv553467	chr11:9518551-9648721	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS 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	37 gene(s)	inside rSNPs	diseases
3	esv3365334	chr11:9593876-9597474	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
4	esv3439005	chr11:9593901-9596949	Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
5	esv3395275	chr11:9594426-9597274	Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	n/a
6	esv3330950	chr11:9594801-9597349	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9591600-9596200	Weak transcription	Fetal Heart	heart
2	chr11:9593600-9596200	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr11:9593600-9596600	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr11:9593600-9598000	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr11:9593800-9596400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:9593800-9596400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:9593800-9596400	Active TSS	HepG2	liver
8	chr11:9593800-9596400	Active TSS	Osteobl	bone
9	chr11:9593800-9596600	Active TSS	Brain Hippocampus Middle	brain
10	chr11:9593800-9597200	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr11:9593800-9597400	Active TSS	A549	lung
12	chr11:9593800-9597800	Active TSS	H1 Cell Line	embryonic stem cell
13	chr11:9593800-9598200	Active TSS	H9 Cell Line	embryonic stem cell
14	chr11:9593800-9599000	Active TSS	Psoas Muscle	Psoas
15	chr11:9593800-9599600	Active TSS	Brain Germinal Matrix	brain
16	chr11:9593800-9599800	Active TSS	HSMMtube	muscle
17	chr11:9594000-9596200	Active TSS	Adipose Nuclei	Adipose
18	chr11:9594000-9596400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:9594000-9596400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:9594000-9596400	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr11:9594000-9597200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:9594000-9597200	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr11:9594000-9597800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:9594000-9597800	Active TSS	Duodenum Mucosa	Duodenum
25	chr11:9594000-9598000	Active TSS	NHEK	skin
26	chr11:9594000-9598200	Active TSS	HSMM	muscle
27	chr11:9594000-9598600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr11:9594000-9598800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:9594000-9599400	Active TSS	Fetal Brain Female	brain
30	chr11:9594200-9596400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr11:9594200-9596400	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr11:9594200-9596400	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr11:9594200-9596600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr11:9594200-9596600	Active TSS	Brain Angular Gyrus	brain
35	chr11:9594200-9596600	Active TSS	Brain Cingulate Gyrus	brain
36	chr11:9594200-9596600	Active TSS	Brain Substantia Nigra	brain
37	chr11:9594200-9596600	Active TSS	Fetal Lung	lung
38	chr11:9594200-9596600	Active TSS	Rectal Smooth Muscle	rectum
39	chr11:9594200-9597000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:9594200-9597200	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr11:9594200-9597600	Active TSS	Brain Anterior Caudate	brain
42	chr11:9594200-9597600	Active TSS	Colonic Mucosa	Colon
43	chr11:9594200-9597800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr11:9594200-9598000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr11:9594200-9598000	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr11:9594200-9598000	Active TSS	Thymus	Thymus
47	chr11:9594200-9598200	Active TSS	Liver	Liver
48	chr11:9594200-9598400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr11:9594200-9598400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr11:9594200-9598400	Active TSS	Left Ventricle	heart

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