Variant report

Variant	rs575207358
Chromosome Location	chr11:17757000-17757001
allele	C/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	REST	chr11:17755718-17757700	HL-60	blood:	n/a	chr11:17756665-17756685 chr11:17756650-17756660 chr11:17757074-17757084 chr11:17756654-17756663 chr11:17756665-17756685 chr11:17756665-17756679 chr11:17756655-17756673
2	REST	chr11:17756072-17757061	HepG2	liver:	n/a	chr11:17756665-17756685 chr11:17756650-17756660 chr11:17756654-17756663 chr11:17756665-17756685 chr11:17756665-17756679 chr11:17756655-17756673
3	ZBTB7A	chr11:17756497-17757005	ECC-1	luminal epithelium:	n/a	chr11:17756992-17757003 chr11:17756993-17757004 chr11:17756789-17756797
4	REST	chr11:17756084-17757116	MCF-7	breast:	n/a	chr11:17756665-17756685 chr11:17756650-17756660 chr11:17757074-17757084 chr11:17756654-17756663 chr11:17756665-17756685 chr11:17756665-17756679 chr11:17756655-17756673
5	REST	chr11:17756127-17757104	HepG2	liver:	n/a	chr11:17756665-17756685 chr11:17756650-17756660 chr11:17757074-17757084 chr11:17756654-17756663 chr11:17756665-17756685 chr11:17756665-17756679 chr11:17756655-17756673
6	REST	chr11:17756487-17757046	PANC-1	pancreas:	n/a	chr11:17756665-17756685 chr11:17756650-17756660 chr11:17756654-17756663 chr11:17756665-17756685 chr11:17756665-17756679 chr11:17756655-17756673
7	MAZ	chr11:17755950-17757891	IMR90	lung:	n/a	chr11:17756890-17756900
8	MXI1	chr11:17755845-17757091	IMR90	lung:	n/a	n/a
9	REST	chr11:17755877-17757311	ECC-1	luminal epithelium:	n/a	chr11:17756665-17756685 chr11:17756650-17756660 chr11:17757074-17757084 chr11:17756654-17756663 chr11:17756665-17756685 chr11:17756665-17756679 chr11:17756655-17756673
10	REST	chr11:17755688-17757535	H1-neurons	neurons:	n/a	chr11:17756665-17756685 chr11:17756650-17756660 chr11:17757074-17757084 chr11:17756654-17756663 chr11:17756665-17756685 chr11:17756665-17756679 chr11:17756655-17756673
11	REST	chr11:17756089-17757165	H1-hESC	embryonic stem cell:	n/a	chr11:17756665-17756685 chr11:17756650-17756660 chr11:17757074-17757084 chr11:17756654-17756663 chr11:17756665-17756685 chr11:17756665-17756679 chr11:17756655-17756673
12	CTCF	chr11:17756860-17757010	WERI-Rb-1	eye:	n/a	n/a
13	POLR2A	chr11:17755939-17757343	H1-neurons	neurons:	n/a	n/a
14	REST	chr11:17756136-17757092	ECC-1	luminal epithelium:	n/a	chr11:17756665-17756685 chr11:17756650-17756660 chr11:17757074-17757084 chr11:17756654-17756663 chr11:17756665-17756685 chr11:17756665-17756679 chr11:17756655-17756673
15	REST	chr11:17756107-17757188	PANC-1	pancreas:	n/a	chr11:17756665-17756685 chr11:17756650-17756660 chr11:17757074-17757084 chr11:17756654-17756663 chr11:17756665-17756685 chr11:17756665-17756679 chr11:17756655-17756673
16	REST	chr11:17756485-17757003	HepG2	liver:	n/a	chr11:17756665-17756685 chr11:17756650-17756660 chr11:17756654-17756663 chr11:17756665-17756685 chr11:17756665-17756679 chr11:17756655-17756673
17	NFIC	chr11:17756465-17757048	ECC-1	luminal epithelium:	n/a	n/a
18	REST	chr11:17755810-17757131	PFSK-1	brain:	n/a	chr11:17756665-17756685 chr11:17756650-17756660 chr11:17757074-17757084 chr11:17756654-17756663 chr11:17756665-17756685 chr11:17756665-17756679 chr11:17756655-17756673
19	REST	chr11:17755998-17757128	PANC-1	pancreas:	n/a	chr11:17756665-17756685 chr11:17756650-17756660 chr11:17757074-17757084 chr11:17756654-17756663 chr11:17756665-17756685 chr11:17756665-17756679 chr11:17756655-17756673
20	REST	chr11:17755998-17757162	SK-N-SH	brain:	n/a	chr11:17756665-17756685 chr11:17756650-17756660 chr11:17757074-17757084 chr11:17756654-17756663 chr11:17756665-17756685 chr11:17756665-17756679 chr11:17756655-17756673
21	REST	chr11:17756034-17757208	HL-60	blood:	n/a	chr11:17756665-17756685 chr11:17756650-17756660 chr11:17757074-17757084 chr11:17756654-17756663 chr11:17756665-17756685 chr11:17756665-17756679 chr11:17756655-17756673
22	REST	chr11:17756166-17757038	PANC-1	pancreas:	n/a	chr11:17756665-17756685 chr11:17756650-17756660 chr11:17756654-17756663 chr11:17756665-17756685 chr11:17756665-17756679 chr11:17756655-17756673
23	SIN3AK20	chr11:17756281-17757011	MCF-7	breast:	n/a	n/a
24	MAX	chr11:17756170-17757039	ECC-1	luminal epithelium:	n/a	chr11:17756890-17756900
25	REST	chr11:17756030-17757181	A549	lung:	n/a	chr11:17756665-17756685 chr11:17756650-17756660 chr11:17757074-17757084 chr11:17756654-17756663 chr11:17756665-17756685 chr11:17756665-17756679 chr11:17756655-17756673
26	ZBTB7A	chr11:17756466-17757055	ECC-1	luminal epithelium:	n/a	chr11:17756992-17757003 chr11:17756993-17757004 chr11:17756789-17756797
27	REST	chr11:17756089-17757038	GM12878	blood:	n/a	chr11:17756665-17756685 chr11:17756650-17756660 chr11:17756654-17756663 chr11:17756665-17756685 chr11:17756665-17756679 chr11:17756655-17756673
28	SIN3A	chr11:17756079-17757079	H1-hESC	embryonic stem cell:	n/a	chr11:17756778-17756791 chr11:17756277-17756288 chr11:17756651-17756660
29	REST	chr11:17756854-17757019	HepG2	liver:	n/a	n/a
30	MXI1	chr11:17755462-17757805	SK-N-SH	brain:	n/a	n/a
31	REST	chr11:17756395-17757145	U87	brain:	n/a	chr11:17756665-17756685 chr11:17756650-17756660 chr11:17757074-17757084 chr11:17756654-17756663 chr11:17756665-17756685 chr11:17756665-17756679 chr11:17756655-17756673
32	REST	chr11:17756470-17757029	SK-N-SH	brain:	n/a	chr11:17756665-17756685 chr11:17756650-17756660 chr11:17756654-17756663 chr11:17756665-17756685 chr11:17756665-17756679 chr11:17756655-17756673
33	REST	chr11:17756126-17757086	PANC-1	pancreas:	n/a	chr11:17756665-17756685 chr11:17756650-17756660 chr11:17757074-17757084 chr11:17756654-17756663 chr11:17756665-17756685 chr11:17756665-17756679 chr11:17756655-17756673
34	TCF12	chr11:17756482-17757124	ECC-1	luminal epithelium:	n/a	n/a
35	REST	chr11:17756112-17757015	K562	blood:	n/a	chr11:17756665-17756685 chr11:17756650-17756660 chr11:17756654-17756663 chr11:17756665-17756685 chr11:17756665-17756679 chr11:17756655-17756673
36	REST	chr11:17756043-17757121	MCF-7	breast:	n/a	chr11:17756665-17756685 chr11:17756650-17756660 chr11:17757074-17757084 chr11:17756654-17756663 chr11:17756665-17756685 chr11:17756665-17756679 chr11:17756655-17756673
37	REST	chr11:17756183-17757006	GM12878	blood:	n/a	chr11:17756665-17756685 chr11:17756650-17756660 chr11:17756654-17756663 chr11:17756665-17756685 chr11:17756665-17756679 chr11:17756655-17756673
38	REST	chr11:17755975-17757180	PFSK-1	brain:	n/a	chr11:17756665-17756685 chr11:17756650-17756660 chr11:17757074-17757084 chr11:17756654-17756663 chr11:17756665-17756685 chr11:17756665-17756679 chr11:17756655-17756673
39	EP300	chr11:17756467-17757059	ECC-1	luminal epithelium:	n/a	chr11:17757043-17757059
40	REST	chr11:17756395-17757042	A549	lung:	n/a	chr11:17756665-17756685 chr11:17756650-17756660 chr11:17756654-17756663 chr11:17756665-17756685 chr11:17756665-17756679 chr11:17756655-17756673
41	REST	chr11:17756125-17757042	GM12878	blood:	n/a	chr11:17756665-17756685 chr11:17756650-17756660 chr11:17756654-17756663 chr11:17756665-17756685 chr11:17756665-17756679 chr11:17756655-17756673
42	POLR2A	chr11:17755965-17757203	H1-neurons	neurons:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:17756986-17757036	NHBE	bronchial:	n/a
2	chr11:17756986-17757036	GM12891	blood:	n/a
3	chr11:17756986-17757036	GM12878	blood:	n/a
4	chr11:17756986-17757036	H1-hESC	embryonic stem cell:	embryo
5	chr11:17756986-17757036	Hepatocyte	liver:	n/a
6	chr11:17756986-17757036	HIPEpiC	eye:	n/a
7	chr11:17756986-17757036	K562	blood:	n/a
8	chr11:17756986-17757036	CMK	blood:	n/a
9	chr11:17756986-17757036	HCPEpiC	choroid plexus:	n/a
10	chr11:17756986-17757036	AG09319	gingival:	n/a
11	chr11:17756986-17757036	AG04450	lung:	fetal
12	chr11:17756986-17757036	SAEC	small airway:	n/a
13	chr11:17756986-17757036	HL-60	blood:	n/a
14	chr11:17756986-17757036	HMEC	breast:	n/a
15	chr11:17756986-17757036	Jurkat	blood:	n/a
16	chr11:17756986-17757036	HRCEpiC	kidney:	n/a
17	chr11:17756986-17757036	NH-A	brain:	n/a
18	chr11:17756986-17757036	GM19239	blood:	n/a
19	chr11:17756986-17757036	PrEC	prostate:	n/a
20	chr11:17756986-17757036	HEEpiC	esophagus:	n/a
21	chr11:17756986-17757036	T-47D	breast:	n/a
22	chr11:17756986-17757036	U87	brain:	n/a
23	chr11:17756986-17757036	MCF10A-Er-Src	breast:	n/a
24	chr11:17756986-17757036	HepG2	liver:	n/a
25	chr11:17756986-17757036	GM06990	blood:	n/a
26	chr11:17756986-17757036	LNCaP	prostate:	n/a
27	chr11:17756986-17757036	AG10803	skin:	n/a
28	chr11:17756986-17757036	SK-N-SH	brain:	n/a
29	chr11:17756986-17757036	ovcar-3	ovarian:	n/a
30	chr11:17756986-17757036	HPAEpiC	pulmonary alveolar:	n/a
31	chr11:17756986-17757036	SK-N-SH_RA	brain:	n/a
32	chr11:17756986-17757036	HEK293	kidney:	embryo
33	chr11:17756986-17757036	Caco-2	colon:	n/a
34	chr11:17756986-17757036	A549	lung:	n/a
35	chr11:17756986-17757036	SK-N-MC	brain:	n/a
36	chr11:17756986-17757036	BJ	skin:	n/a
37	chr11:17756986-17757036	NHDF-neo	bronchial:	n/a
38	chr11:17756986-17757036	HCF	heart:	n/a
39	chr11:17756986-17757036	HRPEpiC	eye:	n/a
40	chr11:17756986-17757036	NB4	blood:	n/a
41	chr11:17756986-17757036	AG04449	skin:	fetal
42	chr11:17756986-17757036	HCT-116	colon:	n/a
43	chr11:17756986-17757036	AG09309	skin:	n/a
44	chr11:17756986-17757036	MCF-7	breast:	n/a
45	chr11:17756986-17757036	IMR90	lung:	fetal
46	chr11:17756986-17757036	GM12892	blood:	n/a
47	chr11:17756986-17757036	HNPCEpiC	eye:	n/a
48	chr11:17756986-17757036	NT2-D1	testis:	n/a
49	chr11:17756986-17757036	PANC-1	pancreas:	n/a
50	chr11:17756986-17757036	HAEpiC	amniotic membrane:	n/a

Variant related genes	Relation type
KCNC1	TF binding region
KCNC1	CpG island

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467717	chr11:17713507-17791822	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv553588	chr11:17713507-17791822	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv825772	chr11:17723530-17783128	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1037585	chr11:17730586-17768346	Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1038119	chr11:17744915-17794577	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv467718	chr11:17744992-17809724	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
7	nsv553589	chr11:17744992-17809724	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
8	esv1793678	chr11:17745099-17786436	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv521511	chr11:17749028-17771487	Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3405723	chr11:17755401-17758149	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
11	esv3413144	chr11:17755501-17757724	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17755600-17757600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr11:17755600-17757800	Enhancers	Fetal Heart	heart
3	chr11:17755800-17757000	Flanking Active TSS	Right Ventricle	heart
4	chr11:17755800-17757200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr11:17755800-17757400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
6	chr11:17755800-17757600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
7	chr11:17755800-17757600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:17755800-17757600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:17755800-17757600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:17755800-17757600	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr11:17755800-17757800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
12	chr11:17755800-17757800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr11:17755800-17757800	Active TSS	Fetal Brain Female	brain
14	chr11:17755800-17757800	Bivalent Enhancer	Lung	lung
15	chr11:17755800-17758000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
16	chr11:17755800-17758000	Bivalent Enhancer	Esophagus	oesophagus
17	chr11:17755800-17761200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
18	chr11:17756000-17757000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:17756000-17757000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:17756000-17757000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:17756000-17757200	Active TSS	H9 Cell Line	embryonic stem cell
22	chr11:17756000-17757200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:17756000-17757200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:17756000-17757200	Active TSS	HSMMtube	muscle
25	chr11:17756000-17757200	Active TSS	NH-A	brain
26	chr11:17756000-17757600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:17756000-17757600	Active TSS	Brain Cingulate Gyrus	brain
28	chr11:17756000-17757600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:17756000-17757800	Bivalent Enhancer	Spleen	Spleen
30	chr11:17756000-17757800	Active TSS	HSMM	muscle
31	chr11:17756000-17758400	Active TSS	Brain Angular Gyrus	brain
32	chr11:17756000-17758800	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr11:17756200-17757000	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:17756200-17757000	Active TSS	Brain Substantia Nigra	brain
35	chr11:17756200-17757000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
36	chr11:17756200-17757000	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr11:17756200-17757000	Active TSS	Fetal Muscle Leg	muscle
38	chr11:17756200-17757000	Active TSS	Left Ventricle	heart
39	chr11:17756200-17757000	Active TSS	Right Atrium	heart
40	chr11:17756200-17757000	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr11:17756200-17757000	Bivalent/Poised TSS	Thymus	Thymus
42	chr11:17756200-17757200	Active TSS	Aorta	Aorta
43	chr11:17756200-17757200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
44	chr11:17756200-17757200	Active TSS	Psoas Muscle	Psoas
45	chr11:17756200-17757400	Active TSS	A549	lung
46	chr11:17756200-17757600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr11:17756200-17757600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:17756200-17758200	Active TSS	Brain Anterior Caudate	brain
49	chr11:17756400-17757000	Weak transcription	Fetal Brain Male	brain
50	chr11:17756400-17757200	Active TSS	iPS-15b Cell Line	embryonic stem cell

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