Variant report

Variant	rs144367403
Chromosome Location	chr11:65771371-65771372
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:65771268-65771386	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:65768961-65771436	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr11:65768990-65772628	GM12878	blood:	n/a	n/a
4	CTCF	chr11:65771180-65771529	Lung_OC	lung:	n/a	n/a
5	CTCF	chr11:65771273-65771460	Kidney_OC	kidney:	n/a	n/a
6	POLR2A	chr11:65770998-65771999	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr11:65770786-65772259	GM12892	blood:	n/a	n/a
8	ZBTB33	chr11:65771095-65771589	K562	blood:	n/a	n/a
9	POLR2A	chr11:65770832-65771510	K562	blood:	n/a	n/a
10	POLR2A	chr11:65769061-65771530	HepG2	liver:	n/a	n/a
11	POLR2A	chr11:65771280-65771640	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:65771022-65772233	GM12892	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65769812..65778104-chr11:65786537..65794453,15	K562	blood:
2	chr11:65727706..65730705-chr11:65767958..65771448,5	K562	blood:
3	chr11:65768250..65771590-chr11:65817294..65821421,6	K562	blood:
4	chr11:65768121..65772581-chr11:65835630..65838620,4	MCF-7	breast:
5	chr11:65728631..65731213-chr11:65769693..65771448,3	K562	blood:
6	chr11:65771026..65774019-chr11:65782878..65784960,2	MCF-7	breast:
7	chr11:65767772..65771693-chr11:65812597..65815090,3	MCF-7	breast:
8	chr11:65626233..65629168-chr11:65768411..65771473,3	MCF-7	breast:
9	chr11:65652640..65657924-chr11:65769844..65772901,4	MCF-7	breast:
10	chr11:65727817..65730505-chr11:65769706..65771571,3	MCF-7	breast:
11	chr11:65380602..65383246-chr11:65768678..65771455,2	K562	blood:
12	chr11:65631727..65633927-chr11:65768782..65771616,2	MCF-7	breast:
13	chr11:65623413..65628719-chr11:65768360..65773657,11	MCF-7	breast:

No data

Variant related genes	Relation type
EIF1AD	TF binding region
ENSG00000172732	Chromatin interaction
ENSG00000255038	Chromatin interaction
ENSG00000175229	Chromatin interaction
ENSG00000175294	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000238752	Chromatin interaction
ENSG00000175115	Chromatin interaction
ENSG00000197136	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000173327	Chromatin interaction
ENSG00000175602	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
2	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
3	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv897768	chr11:65715210-65842064	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
5	nsv897769	chr11:65727799-65828625	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
6	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
7	nsv975942	chr11:65770970-65771808	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65770600-65771400	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr11:65770600-65771800	Enhancers	Fetal Brain Male	brain
3	chr11:65770600-65773800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:65770800-65771400	Genic enhancers	Primary T cells fromperipheralblood	blood
5	chr11:65770800-65771600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr11:65770800-65771800	Enhancers	Left Ventricle	heart
7	chr11:65770800-65772000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:65770800-65772000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:65770800-65774200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:65770800-65775200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr11:65771000-65771400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:65771000-65771400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr11:65771000-65771400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:65771000-65771400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr11:65771000-65771400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr11:65771000-65771400	Enhancers	Fetal Intestine Large	intestine
17	chr11:65771000-65771400	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
18	chr11:65771000-65771400	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
19	chr11:65771000-65771600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr11:65771000-65771600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr11:65771000-65771600	Weak transcription	HSMMtube	muscle
22	chr11:65771000-65771800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:65771000-65772000	Genic enhancers	Fetal Muscle Trunk	muscle
24	chr11:65771000-65772000	Genic enhancers	Fetal Thymus	thymus
25	chr11:65771000-65772000	Enhancers	Stomach Mucosa	stomach
26	chr11:65771000-65772200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:65771000-65773200	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr11:65771000-65774000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:65771000-65774600	Strong transcription	Thymus	Thymus
30	chr11:65771000-65776000	Weak transcription	Small Intestine	intestine
31	chr11:65771000-65779000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr11:65771000-65779000	Weak transcription	Aorta	Aorta
33	chr11:65771200-65771400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr11:65771200-65771400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr11:65771200-65771400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:65771200-65771400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr11:65771200-65771400	Enhancers	Liver	Liver
38	chr11:65771200-65771400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:65771200-65771400	Genic enhancers	Duodenum Mucosa	Duodenum
40	chr11:65771200-65771400	Genic enhancers	Fetal Intestine Small	intestine
41	chr11:65771200-65771400	Enhancers	Pancreas	Pancrea
42	chr11:65771200-65771400	Genic enhancers	Spleen	Spleen
43	chr11:65771200-65771400	Enhancers	HepG2	liver
44	chr11:65771200-65771400	Genic enhancers	HMEC	breast
45	chr11:65771200-65771400	Weak transcription	NH-A	brain
46	chr11:65771200-65771600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr11:65771200-65771600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:65771200-65771600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:65771200-65771600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr11:65771200-65771600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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