Variant report

Variant	rs71579878
Chromosome Location	chr11:64411765-64411766
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	POLR2A	chr11:64411167-64429413	U87	brain:	n/a	n/a
2	POLR2A	chr11:64411167-64414430	U87	brain:	n/a	n/a
3	MXI1	chr11:64409351-64411995	SK-N-SH	brain:	n/a	chr11:64411478-64411487
4	POLR2A	chr11:64411429-64412144	U87	brain:	n/a	n/a
5	POLR2A	chr11:64409300-64412311	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr11:64411378-64412144	U87	brain:	n/a	n/a

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
ENSG00000231492	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10219174	1.00[EUR][1000 genomes]
rs11231863	1.00[EUR][1000 genomes]
rs11823402	1.00[EUR][1000 genomes]
rs12269866	1.00[EUR][1000 genomes]
rs12271728	1.00[EUR][1000 genomes]
rs12275514	1.00[EUR][1000 genomes]
rs12278771	1.00[EUR][1000 genomes]
rs12280878	1.00[EUR][1000 genomes]
rs12285502	1.00[EUR][1000 genomes]
rs17146417	1.00[EUR][1000 genomes]
rs558073	1.00[EUR][1000 genomes]
rs56768513	1.00[EUR][1000 genomes]
rs71526475	1.00[EUR][1000 genomes]
rs71579856	1.00[EUR][1000 genomes]
rs71581770	1.00[EUR][1000 genomes]
rs71581787	1.00[EUR][1000 genomes]
rs71583703	1.00[EUR][1000 genomes]
rs7927181	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	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
16	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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64410600-64412200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr11:64411200-64411800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:64411200-64411800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
4	chr11:64411200-64411800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
5	chr11:64411200-64411800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:64411200-64411800	Flanking Active TSS	Fetal Brain Male	brain
7	chr11:64411200-64412400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr11:64411400-64411800	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
9	chr11:64411400-64411800	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:64411400-64411800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
11	chr11:64411400-64411800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:64411400-64411800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:64411400-64411800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:64411400-64411800	Flanking Active TSS	Brain Cingulate Gyrus	brain
15	chr11:64411400-64411800	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr11:64411400-64411800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
17	chr11:64411400-64411800	Flanking Active TSS	Brain Substantia Nigra	brain
18	chr11:64411400-64411800	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
19	chr11:64411400-64411800	Flanking Bivalent TSS/Enh	Fetal Lung	lung
20	chr11:64411400-64411800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
21	chr11:64411400-64411800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
22	chr11:64411400-64412000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
23	chr11:64411400-64412000	Flanking Active TSS	Brain Germinal Matrix	brain
24	chr11:64411400-64412000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
25	chr11:64411400-64412200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
26	chr11:64411400-64412200	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:64411400-64412200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
28	chr11:64411400-64412200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
29	chr11:64411400-64412200	Bivalent Enhancer	Fetal Heart	heart
30	chr11:64411400-64412400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
31	chr11:64411400-64412400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
32	chr11:64411400-64412400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
33	chr11:64411400-64412800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
34	chr11:64411400-64413000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:64411400-64413000	Bivalent Enhancer	Fetal Thymus	thymus
36	chr11:64411400-64413200	Bivalent Enhancer	NHDF-Ad	bronchial
37	chr11:64411400-64413400	Bivalent Enhancer	Fetal Intestine Large	intestine
38	chr11:64411400-64413600	Bivalent Enhancer	Fetal Intestine Small	intestine
39	chr11:64411600-64411800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
40	chr11:64411600-64411800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:64411600-64411800	Enhancers	Brain Angular Gyrus	brain
42	chr11:64411600-64411800	Bivalent Enhancer	Placenta	Placenta
43	chr11:64411600-64411800	Bivalent Enhancer	Rectal Smooth Muscle	rectum
44	chr11:64411600-64412000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr11:64411600-64412000	Bivalent Enhancer	Primary B cells from cord blood	blood
46	chr11:64411600-64412000	Enhancers	Brain Anterior Caudate	brain
47	chr11:64411600-64412000	Flanking Active TSS	Fetal Brain Female	brain
48	chr11:64411600-64412000	Enhancers	Ovary	ovary
49	chr11:64411600-64412200	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
50	chr11:64411600-64412200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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