Variant report

Variant	rs553951308
Chromosome Location	chr11:85429765-85429766
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	GATA3	chr11:85429749-85430847	A549	lung:	n/a	n/a
2	GATA3	chr11:85429736-85430735	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr11:85429126-85429933	K562	blood:	n/a	n/a
4	FOXA2	chr11:85429629-85430654	A549	lung:	n/a	n/a
5	RCOR1	chr11:85429512-85430923	IMR90	lung:	n/a	n/a
6	YY1	chr11:85429647-85430288	A549	lung:	n/a	n/a
7	POLR2A	chr11:85429580-85430627	U87	brain:	n/a	n/a
8	FOSL2	chr11:85429631-85430683	A549	lung:	n/a	n/a
9	CTCF	chr11:85429720-85429870	NHLF	lung:	n/a	n/a
10	NFIC	chr11:85429754-85430792	SK-N-SH	brain:	n/a	n/a
11	YY1	chr11:85429677-85430589	SK-N-SH	brain:	n/a	chr11:85430498-85430507
12	CEBPB	chr11:85429496-85430455	IMR90	lung:	n/a	n/a
13	EP300	chr11:85429760-85430735	SK-N-SH	brain:	n/a	chr11:85430550-85430564 chr11:85430556-85430570 chr11:85430551-85430565 chr11:85430558-85430572
14	SIX5	chr11:85429562-85430632	A549	lung:	n/a	chr11:85430386-85430402 chr11:85430386-85430402 chr11:85430386-85430402 chr11:85430386-85430402 chr11:85430386-85430402 chr11:85430386-85430402
15	POLR2A	chr11:85429085-85429808	MCF-7	breast:	n/a	n/a
16	SP1	chr11:85429646-85430711	A549	lung:	n/a	n/a
17	MAX	chr11:85429451-85430734	A549	lung:	n/a	n/a
18	TCF12	chr11:85429658-85430885	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr11:85429487-85430627	U87	brain:	n/a	n/a
20	EP300	chr11:85429740-85430760	SK-N-SH	brain:	n/a	chr11:85430550-85430564 chr11:85430556-85430570 chr11:85430551-85430565 chr11:85430558-85430572
21	RAD21	chr11:85429683-85430542	IMR90	lung:	n/a	chr11:85430161-85430175
22	POLR2A	chr11:85429596-85430667	PANC-1	pancreas:	n/a	n/a
23	FOXA2	chr11:85429644-85430606	A549	lung:	n/a	n/a
24	YY1	chr11:85429623-85430656	SK-N-SH	brain:	n/a	chr11:85430498-85430507
25	TCF12	chr11:85429593-85430790	A549	lung:	n/a	n/a
26	POLR2A	chr11:85429391-85430460	IMR90	lung:	n/a	n/a
27	TCF12	chr11:85429711-85430765	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr11:85429222-85430843	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:85423310..85426529-chr11:85429130..85432198,3	MCF-7	breast:
2	chr11:85428619..85430275-chr11:85519411..85522192,2	MCF-7	breast:
3	chr11:85427809..85429920-chr11:85433567..85435878,3	MCF-7	breast:

Variant related genes	Relation type
SYTL2	TF binding region
ENSG00000137501	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	esv2758279	chr11:85180480-85603988	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription 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 target site	56 gene(s)	inside rSNPs	diseases
4	esv2759845	chr11:85180480-85603988	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv468768	chr11:85395180-85436352	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv555632	chr11:85395180-85436352	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv832222	chr11:85405712-85603981	Enhancers Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv898050	chr11:85406915-85499290	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1052123	chr11:85425856-85471132	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv555633	chr11:85426330-85473883	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1036110	chr11:85429074-85471132	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers 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	nsv1054027	chr11:85429074-85477283	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	esv3471508	chr11:85429687-85472395	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	esv3471519	chr11:85429687-85472395	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85396800-85429800	Weak transcription	Stomach Mucosa	stomach
2	chr11:85397200-85438600	Weak transcription	Colonic Mucosa	Colon
3	chr11:85397800-85430000	Weak transcription	Ovary	ovary
4	chr11:85406200-85429800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:85412000-85436800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr11:85412000-85438000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr11:85413800-85430000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr11:85417600-85453000	Weak transcription	Gastric	stomach
9	chr11:85418400-85436400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr11:85422400-85430200	Weak transcription	Fetal Kidney	kidney
11	chr11:85422600-85448600	Weak transcription	Fetal Intestine Large	intestine
12	chr11:85422800-85448200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr11:85423000-85429800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr11:85423600-85430000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr11:85424000-85448600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr11:85424600-85429800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:85425600-85429800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr11:85427000-85430600	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr11:85427200-85430200	Active TSS	NHLF	lung
20	chr11:85427200-85430600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr11:85427200-85430600	Active TSS	Fetal Muscle Trunk	muscle
22	chr11:85427200-85433000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr11:85427400-85430600	Active TSS	HSMMtube	muscle
24	chr11:85427600-85429800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr11:85427600-85430400	Active TSS	NHDF-Ad	bronchial
26	chr11:85427800-85429800	Weak transcription	Psoas Muscle	Psoas
27	chr11:85427800-85430000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr11:85427800-85430600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:85428200-85430600	Active TSS	HSMM	muscle
30	chr11:85428400-85430200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr11:85428400-85430600	Active TSS	Brain Angular Gyrus	brain
32	chr11:85428600-85429800	Flanking Active TSS	A549	lung
33	chr11:85428600-85430000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:85428600-85430800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr11:85428600-85431000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:85428600-85432000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr11:85428800-85430000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr11:85428800-85430400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr11:85429000-85429800	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr11:85429000-85430000	Active TSS	Fetal Lung	lung
41	chr11:85429000-85430000	Weak transcription	Small Intestine	intestine
42	chr11:85429000-85430200	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr11:85429000-85430600	Active TSS	Brain Hippocampus Middle	brain
44	chr11:85429000-85430600	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr11:85429000-85430600	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr11:85429200-85429800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:85429200-85429800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:85429200-85429800	Weak transcription	Fetal Brain Male	brain
49	chr11:85429200-85430200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr11:85429400-85429800	Enhancers	H9 Cell Line	embryonic stem cell

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