Variant report

Variant	rs536260024
Chromosome Location	chr11:64411463-64411464
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	USF1	chr11:64411377-64411588	SK-N-SH_RA	brain:	n/a	n/a
2	USF1	chr11:64411352-64411595	SK-N-SH_RA	brain:	n/a	n/a
3	MXI1	chr11:64411456-64411656	H1-hESC	embryonic stem cell:	n/a	chr11:64411478-64411487
4	POLR2A	chr11:64411167-64429413	U87	brain:	n/a	n/a
5	MAX	chr11:64410952-64411712	H1-hESC	embryonic stem cell:	n/a	chr11:64411478-64411485 chr11:64411476-64411487 chr11:64411538-64411548 chr11:64411265-64411275 chr11:64411107-64411117 chr11:64411477-64411487
6	MAX	chr11:64411433-64411594	NB4	blood:	n/a	chr11:64411478-64411485 chr11:64411476-64411487 chr11:64411538-64411548 chr11:64411477-64411487
7	POLR2A	chr11:64411167-64414430	U87	brain:	n/a	n/a
8	MXI1	chr11:64409351-64411995	SK-N-SH	brain:	n/a	chr11:64411478-64411487
9	MAX	chr11:64411036-64411674	H1-hESC	embryonic stem cell:	n/a	chr11:64411478-64411485 chr11:64411476-64411487 chr11:64411538-64411548 chr11:64411265-64411275 chr11:64411107-64411117 chr11:64411477-64411487
10	MAX	chr11:64411366-64411687	H1-hESC	embryonic stem cell:	n/a	chr11:64411478-64411485 chr11:64411476-64411487 chr11:64411538-64411548 chr11:64411477-64411487
11	POLR2A	chr11:64411443-64411628	ProgFib	skin:	n/a	n/a
12	MAX	chr11:64411418-64411523	A549	lung:	n/a	chr11:64411478-64411485 chr11:64411476-64411487 chr11:64411477-64411487
13	POLR2A	chr11:64411429-64412144	U87	brain:	n/a	n/a
14	POLR2A	chr11:64409300-64412311	H1-neurons	neurons:	n/a	n/a
15	GATA2	chr11:64411242-64411635	SH-SY5Y	brain:	n/a	n/a
16	POLR2A	chr11:64411378-64412144	U87	brain:	n/a	n/a
17	BHLHE40	chr11:64411418-64411584	K562	blood:	n/a	n/a
18	MAX	chr11:64411335-64411654	MCF-7	breast:	n/a	chr11:64411478-64411485 chr11:64411476-64411487 chr11:64411538-64411548 chr11:64411477-64411487
19	MAX	chr11:64411332-64411635	K562	blood:	n/a	chr11:64411478-64411485 chr11:64411476-64411487 chr11:64411538-64411548 chr11:64411477-64411487
20	POLR2A	chr11:64409535-64411757	H1-neurons	neurons:	n/a	n/a
21	MYC	chr11:64411414-64411582	MCF-7	breast:	n/a	chr11:64411478-64411485 chr11:64411476-64411487 chr11:64411538-64411548 chr11:64411477-64411487

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:64411428-64411478	AoSMC	blood vessel:	n/a
2	chr11:64411428-64411478	GM06990	blood:	n/a
3	chr11:64411428-64411478	NT2-D1	testis:	n/a
4	chr11:64411428-64411478	MCF10A-Er-Src	breast:	n/a
5	chr11:64411428-64411478	AG09319	gingival:	n/a
6	chr11:64411428-64411478	HPAEpiC	pulmonary alveolar:	n/a
7	chr11:64411428-64411478	ECC-1	luminal epithelium:	n/a
8	chr11:64411428-64411478	Caco-2	colon:	n/a
9	chr11:64411428-64411478	HCT-116	colon:	n/a
10	chr11:64411428-64411478	HAEpiC	amniotic membrane:	n/a
11	chr11:64411428-64411478	HL-60	blood:	n/a
12	chr11:64411428-64411478	H1-hESC	embryonic stem cell:	embryo
13	chr11:64411428-64411478	NHBE	bronchial:	n/a
14	chr11:64411428-64411478	BE2_C	brain:	n/a
15	chr11:64411428-64411478	HRPEpiC	eye:	n/a
16	chr11:64411428-64411478	HRE	kidney:	n/a
17	chr11:64411428-64411478	BJ	skin:	n/a
18	chr11:64411428-64411478	HEEpiC	esophagus:	n/a
19	chr11:64411428-64411478	A549	lung:	n/a
20	chr11:64411428-64411478	HEK293	kidney:	embryo
21	chr11:64411428-64411478	MCF-7	breast:	n/a
22	chr11:64411428-64411478	ProgFib	skin:	n/a
23	chr11:64411428-64411478	SK-N-SH	brain:	n/a
24	chr11:64411428-64411478	SAEC	small airway:	n/a
25	chr11:64411428-64411478	GM19239	blood:	n/a
26	chr11:64411428-64411478	GM12878	blood:	n/a
27	chr11:64411428-64411478	SK-N-SH_RA	brain:	n/a
28	chr11:64411428-64411478	HMEC	breast:	n/a
29	chr11:64411428-64411478	HIPEpiC	eye:	n/a
30	chr11:64411428-64411478	RPTEC	kidney:	n/a
31	chr11:64411428-64411478	NHDF-neo	bronchial:	n/a
32	chr11:64411428-64411478	Jurkat	blood:	n/a
33	chr11:64411428-64411478	SK-N-MC	brain:	n/a
34	chr11:64411428-64411478	K562	blood:	n/a
35	chr11:64411428-64411478	T-47D	breast:	n/a
36	chr11:64411428-64411478	HUVEC	blood vessel:	n/a
37	chr11:64411428-64411478	HNPCEpiC	eye:	n/a
38	chr11:64411428-64411478	NB4	blood:	n/a
39	chr11:64411428-64411478	HCF	heart:	n/a
40	chr11:64411428-64411478	IMR90	lung:	fetal
41	chr11:64411428-64411478	NH-A	brain:	n/a
42	chr11:64411428-64411478	PrEC	prostate:	n/a
43	chr11:64411428-64411478	AG10803	skin:	n/a
44	chr11:64411428-64411478	GM12891	blood:	n/a
45	chr11:64411428-64411478	LNCaP	prostate:	n/a
46	chr11:64411428-64411478	Hepatocyte	liver:	n/a
47	chr11:64411428-64411478	U87	brain:	n/a
48	chr11:64411428-64411478	HRCEpiC	kidney:	n/a
49	chr11:64411428-64411478	PFSK-1	brain:	n/a
50	chr11:64411428-64411478	AG04450	lung:	fetal

No.	Distal block	Cell Line	Cell type
1	chr11:64411217..64413501-chr11:64452044..64454513,2	K562	blood:
2	chr11:64411039..64413414-chr11:64416751..64419165,4	K562	blood:
3	11:64187725-64189071..11:64402707-64415880	K562	blood:

Variant related genes	Relation type
NRXN2	TF binding region
ENSG00000237410	TF binding region
ENSG00000237410	CpG island
NRXN2	CpG island
ENSG00000231492	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897693	chr11:64305452-64440920	Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv2422214	chr11:64312491-64483418	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv832188	chr11:64315368-64485209	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv468596	chr11:64334114-64527080	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv555195	chr11:64334114-64527080	Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv897694	chr11:64334114-64584959	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
7	nsv818842	chr11:64345448-64546391	Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
8	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
9	nsv555196	chr11:64357072-64559898	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
10	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
11	nsv897696	chr11:64365796-64412877	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv1051350	chr11:64372906-64533632	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
13	nsv555198	chr11:64373899-64573589	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
14	esv1804443	chr11:64386453-64534785	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
15	esv3392074	chr11:64409001-64411549	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	esv3405495	chr11:64409776-64411924	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
17	esv3330626	chr11:64409926-64412124	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64409200-64411600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
2	chr11:64409400-64411600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
3	chr11:64409600-64411600	Active TSS	Fetal Brain Female	brain
4	chr11:64409800-64411600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:64410600-64411600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
6	chr11:64410600-64412200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr11:64410800-64411600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:64411200-64411600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr11:64411200-64411600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:64411200-64411600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:64411200-64411600	Bivalent Enhancer	Lung	lung
12	chr11:64411200-64411800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:64411200-64411800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr11:64411200-64411800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
15	chr11:64411200-64411800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:64411200-64411800	Flanking Active TSS	Fetal Brain Male	brain
17	chr11:64411200-64412400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr11:64411400-64411600	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:64411400-64411600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:64411400-64411600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:64411400-64411600	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:64411400-64411600	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:64411400-64411600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
24	chr11:64411400-64411600	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
25	chr11:64411400-64411600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
26	chr11:64411400-64411600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
27	chr11:64411400-64411600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
28	chr11:64411400-64411600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr11:64411400-64411600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr11:64411400-64411600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr11:64411400-64411600	Bivalent Enhancer	Adipose Nuclei	Adipose
32	chr11:64411400-64411600	Enhancers	Aorta	Aorta
33	chr11:64411400-64411600	Bivalent Enhancer	Liver	Liver
34	chr11:64411400-64411600	Flanking Active TSS	Brain Angular Gyrus	brain
35	chr11:64411400-64411600	Flanking Active TSS	Brain Anterior Caudate	brain
36	chr11:64411400-64411600	Flanking Active TSS	Colon Smooth Muscle	Colon
37	chr11:64411400-64411600	Bivalent Enhancer	Esophagus	oesophagus
38	chr11:64411400-64411600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
39	chr11:64411400-64411600	Enhancers	Gastric	stomach
40	chr11:64411400-64411600	Flanking Active TSS	Ovary	ovary
41	chr11:64411400-64411600	Enhancers	Pancreas	Pancrea
42	chr11:64411400-64411600	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
43	chr11:64411400-64411600	Genic enhancers	Right Atrium	heart
44	chr11:64411400-64411600	Bivalent Enhancer	Right Ventricle	heart
45	chr11:64411400-64411600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
46	chr11:64411400-64411600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
47	chr11:64411400-64411600	Bivalent Enhancer	Spleen	Spleen
48	chr11:64411400-64411800	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
49	chr11:64411400-64411800	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:64411400-64411800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell

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