Variant report

Variant	rs953778
Chromosome Location	chr11:64066999-64067000
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr11:64066550-64067161	ECC-1	luminal epithelium:	n/a	n/a
2	SUZ12	chr11:64066782-64068589	H1-hESC	embryonic stem cell:	n/a	n/a
3	EGR1	chr11:64066865-64067110	K562	blood:	n/a	n/a
4	ZBTB7A	chr11:64066636-64067286	ECC-1	luminal epithelium:	n/a	n/a
5	CTBP2	chr11:64066826-64067406	H1-hESC	embryonic stem cell:	n/a	n/a
6	ZBTB7A	chr11:64066656-64067367	ECC-1	luminal epithelium:	n/a	n/a
7	SUZ12	chr11:64066539-64068638	NT2-D1	testis:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64062581..64067286-chr11:64069885..64074549,10	MCF-7	breast:
2	chr11:64033188..64045448-chr11:64059274..64075790,38	MCF-7	breast:
3	chr11:64028825..64031822-chr11:64066908..64069442,2	MCF-7	breast:
4	chr11:64064984..64067480-chr11:64085885..64088331,2	K562	blood:
5	chr11:64066836..64070235-chr11:64070747..64073935,5	MCF-7	breast:
6	chr11:64003628..64022712-chr11:64064086..64078429,56	MCF-7	breast:
7	chr11:63972205..63974369-chr11:64065015..64067171,2	MCF-7	breast:
8	chr11:64005251..64012775-chr11:64065543..64076594,19	MCF-7	breast:
9	chr11:64066417..64068091-chr11:64119333..64120840,2	K562	blood:

No data

Variant related genes	Relation type
TEX40	TF binding region
ENSG00000149781	Chromatin interaction
ENSG00000173457	Chromatin interaction
ENSG00000256940	Chromatin interaction
ENSG00000002330	Chromatin interaction
ENSG00000219435	Chromatin interaction
ENSG00000149782	Chromatin interaction
ENSG00000173486	Chromatin interaction
ENSG00000173153	Chromatin interaction
ENSG00000173264	Chromatin interaction
ENSG00000257086	Chromatin interaction
ENSG00000173511	Chromatin interaction
ENSG00000168071	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10792429	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs11231699	0.85[JPT][hapmap]
rs11231735	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs11231742	0.86[ASN][1000 genomes]
rs11231745	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231748	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2244621	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs2302263	1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[YRI][hapmap];0.84[ASN][1000 genomes]
rs34499953	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3751117	0.90[JPT][hapmap]
rs3903175	0.89[EUR][1000 genomes]
rs4930702	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7107446	0.89[EUR][1000 genomes]
rs9988817	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9988874	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
2	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
3	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
4	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
5	nsv469961	chr11:63822940-64085967	Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
6	nsv897660	chr11:63860826-64125142	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	231 gene(s)	inside rSNPs	diseases
7	nsv897661	chr11:63863405-64129722	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
8	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
9	nsv897664	chr11:63919742-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
10	nsv869944	chr11:63932152-64123062	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
11	nsv468593	chr11:63941734-64089874	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
12	nsv555185	chr11:63941734-64089874	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
13	nsv555186	chr11:63949095-64097233	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
14	nsv897667	chr11:63964657-64078380	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
15	nsv897668	chr11:63964657-64085298	Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	163 gene(s)	inside rSNPs	diseases
16	nsv897669	chr11:63964657-64089874	Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
17	nsv897670	chr11:63964657-64097233	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
18	nsv897671	chr11:63964657-64150370	Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
19	nsv832186	chr11:63972260-64170059	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	180 gene(s)	inside rSNPs	diseases
20	nsv897672	chr11:63979643-64082807	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
21	esv1802320	chr11:63987425-64154633	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
22	nsv897679	chr11:63994692-64150370	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
23	nsv897682	chr11:63999529-64170500	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
24	nsv1043277	chr11:64002997-64132030	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
25	nsv897685	chr11:64048912-64150370	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
26	nsv897686	chr11:64049021-64072244	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
27	nsv897687	chr11:64049021-64078380	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs953778	PRDX5	Cis_1M	lymphoblastoid	RTeQTL
rs953778	HSPC152	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64064200-64068000	Weak transcription	A549	lung
2	chr11:64064200-64068200	Weak transcription	Hela-S3	cervix
3	chr11:64064400-64067000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
4	chr11:64064600-64067200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr11:64064800-64067600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr11:64064800-64067800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
7	chr11:64065400-64067000	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr11:64065800-64067000	Weak transcription	Gastric	stomach
9	chr11:64066600-64067000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
10	chr11:64066600-64067000	Enhancers	Primary hematopoietic stem cells	blood
11	chr11:64066600-64067000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
12	chr11:64066600-64067000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
13	chr11:64066600-64067000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr11:64066600-64067000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:64066600-64067000	Enhancers	Brain Angular Gyrus	brain
16	chr11:64066600-64067000	Bivalent Enhancer	Fetal Stomach	stomach
17	chr11:64066600-64067000	Bivalent/Poised TSS	Osteobl	bone
18	chr11:64066600-64067200	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr11:64066600-64067200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
20	chr11:64066600-64067200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr11:64066600-64067200	Bivalent Enhancer	Fetal Intestine Small	intestine
22	chr11:64066600-64067200	Bivalent Enhancer	Placenta	Placenta
23	chr11:64066600-64067200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
24	chr11:64066600-64067200	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
25	chr11:64066600-64067200	Bivalent/Poised TSS	HepG2	liver
26	chr11:64066600-64067400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:64066600-64067400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:64066600-64067400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
29	chr11:64066600-64067400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
30	chr11:64066600-64067400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:64066600-64067400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:64066600-64067400	Active TSS	Brain Anterior Caudate	brain
33	chr11:64066600-64067400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
34	chr11:64066600-64067400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
35	chr11:64066600-64067400	Bivalent/Poised TSS	Psoas Muscle	Psoas
36	chr11:64066600-64067400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
37	chr11:64066600-64067400	Enhancers	NHDF-Ad	bronchial
38	chr11:64066600-64067600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
39	chr11:64066600-64067600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr11:64066600-64067600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
41	chr11:64066600-64067600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr11:64066600-64067600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
43	chr11:64066600-64067800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
44	chr11:64066600-64067800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
45	chr11:64066600-64068000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
46	chr11:64066600-64068000	Bivalent Enhancer	Primary B cells from cord blood	blood
47	chr11:64066600-64068000	Active TSS	Brain Cingulate Gyrus	brain
48	chr11:64066600-64068000	Bivalent Enhancer	Fetal Intestine Large	intestine
49	chr11:64066600-64068000	Active TSS	Right Atrium	heart
50	chr11:64066600-64068000	Bivalent Enhancer	Stomach Mucosa	stomach

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