Variant report

Variant	rs36101996
Chromosome Location	chr11:17757417-17757418
allele	A/C
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	POLR2A	chr11:17757362-17757910	H1-neurons	neurons:	n/a	n/a
3	CTCF	chr11:17757400-17757550	RPTEC	kidney:	n/a	chr11:17757484-17757502 chr11:17757490-17757499 chr11:17757485-17757501
4	MAZ	chr11:17755950-17757891	IMR90	lung:	n/a	chr11:17756890-17756900
5	CTCF	chr11:17757320-17757470	GM06990	blood:	n/a	n/a
6	CTCF	chr11:17757297-17757586	HepG2	liver:	n/a	chr11:17757484-17757502 chr11:17757490-17757499 chr11:17757485-17757501
7	MAX	chr11:17757289-17758095	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr11:17757400-17757550	AG09319	gingival:	n/a	chr11:17757484-17757502 chr11:17757490-17757499 chr11:17757485-17757501
9	CTCF	chr11:17757360-17757510	GM12873	blood:	n/a	chr11:17757484-17757502 chr11:17757490-17757499 chr11:17757485-17757501
10	E2F6	chr11:17757073-17758320	H1-hESC	embryonic stem cell:	n/a	chr11:17758148-17758160 chr11:17757123-17757131 chr11:17757124-17757131 chr11:17757124-17757131 chr11:17758051-17758059 chr11:17757124-17757131 chr11:17757455-17757469 chr11:17757463-17757472 chr11:17757120-17757134
11	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
12	CTCF	chr11:17757410-17757596	A549	lung:	n/a	chr11:17757484-17757502 chr11:17757490-17757499 chr11:17757485-17757501
13	RAD21	chr11:17757374-17757559	SK-N-SH_RA	brain:	n/a	chr11:17757439-17757449 chr11:17757482-17757501
14	CTCF	chr11:17757400-17757550	HAc	cerebellar:	n/a	chr11:17757484-17757502 chr11:17757490-17757499 chr11:17757485-17757501
15	REST	chr11:17757321-17757595	HepG2	liver:	n/a	n/a
16	SIN3A	chr11:17757390-17757719	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr11:17757380-17757530	HVMF	connective:	n/a	chr11:17757484-17757502 chr11:17757490-17757499 chr11:17757485-17757501
18	CTCF	chr11:17757360-17757510	HPAF	blood vessel:	n/a	chr11:17757484-17757502 chr11:17757490-17757499 chr11:17757485-17757501
19	CTCF	chr11:17757400-17757550	GM12873	blood:	n/a	chr11:17757484-17757502 chr11:17757490-17757499 chr11:17757485-17757501
20	REST	chr11:17757246-17757509	SK-N-SH	brain:	n/a	n/a
21	ZNF143	chr11:17757239-17757813	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr11:17757360-17757510	BJ	skin:	n/a	chr11:17757484-17757502 chr11:17757490-17757499 chr11:17757485-17757501
23	CTCF	chr11:17757340-17757490	AoAF	blood vessel:	n/a	n/a
24	CHD2	chr11:17757402-17757762	H1-hESC	embryonic stem cell:	n/a	chr11:17757442-17757452
25	POLR2A	chr11:17757209-17757832	H1-neurons	neurons:	n/a	n/a
26	CTCF	chr11:17757339-17757572	HepG2	liver:	n/a	chr11:17757484-17757502 chr11:17757490-17757499 chr11:17757485-17757501
27	CTCF	chr11:17757400-17757550	AG04450	lung:	n/a	chr11:17757484-17757502 chr11:17757490-17757499 chr11:17757485-17757501
28	CTCF	chr11:17757313-17757675	A549	lung:	n/a	chr11:17757484-17757502 chr11:17757490-17757499 chr11:17757485-17757501
29	CTCF	chr11:17757360-17757510	HEK293	kidney:	n/a	chr11:17757484-17757502 chr11:17757490-17757499 chr11:17757485-17757501
30	CTCF	chr11:17757272-17757628	H1-hESC	embryonic stem cell:	n/a	chr11:17757484-17757502 chr11:17757490-17757499 chr11:17757485-17757501
31	E2F6	chr11:17757201-17758245	H1-hESC	embryonic stem cell:	n/a	chr11:17758148-17758160 chr11:17758051-17758059 chr11:17757455-17757469 chr11:17757463-17757472
32	MAZ	chr11:17757381-17757597	HepG2	liver:	n/a	n/a
33	CTCF	chr11:17757380-17757530	HMEC	breast:	n/a	chr11:17757484-17757502 chr11:17757490-17757499 chr11:17757485-17757501
34	CTCF	chr11:17757400-17757550	HVMF	connective:	n/a	chr11:17757484-17757502 chr11:17757490-17757499 chr11:17757485-17757501
35	CTCF	chr11:17757340-17757490	BJ	skin:	n/a	n/a
36	CTCF	chr11:17757400-17757550	GM12871	blood:	n/a	chr11:17757484-17757502 chr11:17757490-17757499 chr11:17757485-17757501
37	CTCF	chr11:17757380-17757530	HA-sp	spinal cord:	n/a	chr11:17757484-17757502 chr11:17757490-17757499 chr11:17757485-17757501
38	CTCF	chr11:17757393-17757664	H1-hESC	embryonic stem cell:	n/a	chr11:17757484-17757502 chr11:17757490-17757499 chr11:17757485-17757501
39	CTCF	chr11:17757365-17757582	SK-N-SH_RA	brain:	n/a	chr11:17757484-17757502 chr11:17757490-17757499 chr11:17757485-17757501
40	CTCF	chr11:17757286-17757674	H1-hESC	embryonic stem cell:	n/a	chr11:17757484-17757502 chr11:17757490-17757499 chr11:17757485-17757501
41	CTCF	chr11:17757352-17757668	IMR90	lung:	n/a	chr11:17757484-17757502 chr11:17757490-17757499 chr11:17757485-17757501
42	CTCF	chr11:17757240-17757530	AG09309	skin:	n/a	chr11:17757484-17757502 chr11:17757490-17757499 chr11:17757485-17757501
43	MXI1	chr11:17755462-17757805	SK-N-SH	brain:	n/a	n/a
44	CTCF	chr11:17757400-17757550	HepG2	liver:	n/a	chr11:17757484-17757502 chr11:17757490-17757499 chr11:17757485-17757501
45	CTCF	chr11:17757400-17757550	HUVEC	blood vessel:	n/a	chr11:17757484-17757502 chr11:17757490-17757499 chr11:17757485-17757501
46	CTCF	chr11:17757400-17757550	GM12868	blood:	n/a	chr11:17757484-17757502 chr11:17757490-17757499 chr11:17757485-17757501
47	CTCF	chr11:17757400-17757550	GM12869	blood:	n/a	chr11:17757484-17757502 chr11:17757490-17757499 chr11:17757485-17757501
48	CTCF	chr11:17757320-17757470	HRE	kidney:	n/a	n/a
49	CTCF	chr11:17757254-17757873	SK-N-SH	brain:	n/a	chr11:17757484-17757502 chr11:17757490-17757499 chr11:17757485-17757501
50	CTCF	chr11:17757380-17757530	HRPEpiC	eye:	n/a	chr11:17757484-17757502 chr11:17757490-17757499 chr11:17757485-17757501

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:17757415-17757465	SKMC	muscle:	n/a
2	chr11:17757415-17757465	ovcar-3	ovarian:	n/a
3	chr11:17757415-17757465	K562	blood:	n/a
4	chr11:17757415-17757465	SK-N-MC	brain:	n/a
5	chr11:17757415-17757465	AG09309	skin:	n/a
6	chr11:17757415-17757465	ProgFib	skin:	n/a
7	chr11:17757415-17757465	MCF10A-Er-Src	breast:	n/a
8	chr11:17757415-17757465	U87	brain:	n/a
9	chr11:17757415-17757465	NB4	blood:	n/a
10	chr11:17757415-17757465	HMEC	breast:	n/a
11	chr11:17757415-17757465	SK-N-SH_RA	brain:	n/a
12	chr11:17757415-17757465	PANC-1	pancreas:	n/a
13	chr11:17757415-17757465	NH-A	brain:	n/a
14	chr11:17757415-17757465	HEK293	kidney:	embryo
15	chr11:17757415-17757465	SAEC	small airway:	n/a
16	chr11:17757415-17757465	HAEpiC	amniotic membrane:	n/a
17	chr11:17757415-17757465	HIPEpiC	eye:	n/a
18	chr11:17757415-17757465	PrEC	prostate:	n/a
19	chr11:17757415-17757465	BE2_C	brain:	n/a
20	chr11:17757415-17757465	IMR90	lung:	fetal
21	chr11:17757415-17757465	PFSK-1	brain:	n/a
22	chr11:17757415-17757465	HUVEC	blood vessel:	n/a
23	chr11:17757415-17757465	NT2-D1	testis:	n/a
24	chr11:17757415-17757465	AG09319	gingival:	n/a
25	chr11:17757415-17757465	HCF	heart:	n/a
26	chr11:17757415-17757465	RPTEC	kidney:	n/a
27	chr11:17757415-17757465	HCT-116	colon:	n/a
28	chr11:17757415-17757465	T-47D	breast:	n/a
29	chr11:17757415-17757465	AG04450	lung:	fetal
30	chr11:17757415-17757465	GM06990	blood:	n/a
31	chr11:17757415-17757465	LNCaP	prostate:	n/a
32	chr11:17757415-17757465	GM12892	blood:	n/a
33	chr11:17757415-17757465	GM19239	blood:	n/a
34	chr11:17757415-17757465	HPAEpiC	pulmonary alveolar:	n/a
35	chr11:17757415-17757465	NHDF-neo	bronchial:	n/a
36	chr11:17757415-17757465	ECC-1	luminal epithelium:	n/a
37	chr11:17757415-17757465	Hela-S3	cervix:	n/a
38	chr11:17757415-17757465	Jurkat	blood:	n/a
39	chr11:17757415-17757465	HCPEpiC	choroid plexus:	n/a
40	chr11:17757415-17757465	CMK	blood:	n/a
41	chr11:17757415-17757465	AoSMC	blood vessel:	n/a
42	chr11:17757415-17757465	HRE	kidney:	n/a
43	chr11:17757415-17757465	HepG2	liver:	n/a
44	chr11:17757415-17757465	Hepatocyte	liver:	n/a
45	chr11:17757415-17757465	HEEpiC	esophagus:	n/a
46	chr11:17757415-17757465	AG04449	skin:	fetal
47	chr11:17757415-17757465	Caco-2	colon:	n/a
48	chr11:17757415-17757465	HNPCEpiC	eye:	n/a
49	chr11:17757415-17757465	BJ	skin:	n/a
50	chr11:17757415-17757465	NHBE	bronchial:	n/a

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

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs34856356	0.84[AMR][1000 genomes]
rs36096028	0.91[AMR][1000 genomes]
rs71484784	1.00[AMR][1000 genomes]

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:61 , 50 per page) page: 1 2

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	chr11:17755800-17757600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
4	chr11:17755800-17757600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:17755800-17757600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:17755800-17757600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:17755800-17757600	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr11:17755800-17757800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr11:17755800-17757800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr11:17755800-17757800	Active TSS	Fetal Brain Female	brain
11	chr11:17755800-17757800	Bivalent Enhancer	Lung	lung
12	chr11:17755800-17758000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr11:17755800-17758000	Bivalent Enhancer	Esophagus	oesophagus
14	chr11:17755800-17761200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
15	chr11:17756000-17757600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:17756000-17757600	Active TSS	Brain Cingulate Gyrus	brain
17	chr11:17756000-17757600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:17756000-17757800	Bivalent Enhancer	Spleen	Spleen
19	chr11:17756000-17757800	Active TSS	HSMM	muscle
20	chr11:17756000-17758400	Active TSS	Brain Angular Gyrus	brain
21	chr11:17756000-17758800	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr11:17756200-17757600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr11:17756200-17757600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:17756200-17758200	Active TSS	Brain Anterior Caudate	brain
25	chr11:17756400-17757600	Bivalent Enhancer	Colonic Mucosa	Colon
26	chr11:17756800-17757600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
27	chr11:17757000-17757600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:17757000-17757600	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr11:17757000-17758000	Enhancers	Pancreas	Pancrea
30	chr11:17757000-17758000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
31	chr11:17757000-17758200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:17757000-17758200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr11:17757000-17758200	Enhancers	Fetal Brain Male	brain
34	chr11:17757000-17758200	Enhancers	Gastric	stomach
35	chr11:17757000-17759800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
36	chr11:17757000-17771800	Weak transcription	Right Atrium	heart
37	chr11:17757200-17757600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:17757200-17757600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr11:17757200-17757600	Enhancers	Stomach Smooth Muscle	stomach
40	chr11:17757200-17757800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:17757200-17757800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
42	chr11:17757200-17758000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:17757200-17758000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:17757200-17758000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr11:17757200-17758000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr11:17757200-17758000	Bivalent Enhancer	Psoas Muscle	Psoas
47	chr11:17757200-17758400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:17757200-17759000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
49	chr11:17757200-17760800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
50	chr11:17757400-17757600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell

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