Variant report

Variant	rs577349700
Chromosome Location	chr11:85430543-85430544
allele	A/C
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	SIN3AK20	chr11:85429981-85430576	A549	lung:	n/a	n/a
3	GATA3	chr11:85429736-85430735	SK-N-SH	brain:	n/a	n/a
4	FOSL2	chr11:85429852-85430727	SK-N-SH	brain:	n/a	n/a
5	EP300	chr11:85429961-85430641	A549	lung:	n/a	chr11:85430550-85430564 chr11:85430556-85430570 chr11:85430551-85430565 chr11:85430558-85430572
6	REST	chr11:85429956-85430736	PANC-1	pancreas:	n/a	n/a
7	MEF2A	chr11:85429894-85430751	SK-N-SH	brain:	n/a	chr11:85430442-85430457
8	USF1	chr11:85429876-85430655	A549	lung:	n/a	n/a
9	USF1	chr11:85430164-85430638	A549	lung:	n/a	n/a
10	FOXA2	chr11:85429629-85430654	A549	lung:	n/a	n/a
11	SP1	chr11:85430426-85430927	H1-hESC	embryonic stem cell:	n/a	n/a
12	CBX3	chr11:85429945-85430631	HCT-116	colon:	n/a	n/a
13	RCOR1	chr11:85429512-85430923	IMR90	lung:	n/a	n/a
14	GABPA	chr11:85429849-85430636	A549	lung:	n/a	n/a
15	TCF12	chr11:85429962-85430557	ECC-1	luminal epithelium:	n/a	n/a
16	ATF3	chr11:85430045-85430590	HCT-116	colon:	n/a	n/a
17	EP300	chr11:85429944-85430603	SK-N-SH_RA	brain:	n/a	chr11:85430550-85430564 chr11:85430556-85430570 chr11:85430551-85430565 chr11:85430558-85430572
18	SP1	chr11:85429809-85430729	A549	lung:	n/a	n/a
19	GABPA	chr11:85429810-85430610	SK-N-SH	brain:	n/a	n/a
20	MAX	chr11:85430313-85430613	H1-hESC	embryonic stem cell:	n/a	n/a
21	FOXM1	chr11:85429944-85430610	SK-N-SH	brain:	n/a	n/a
22	MAX	chr11:85429914-85430561	HCT-116	colon:	n/a	n/a
23	JUND	chr11:85429911-85430669	HCT-116	colon:	n/a	n/a
24	ZBTB33	chr11:85429979-85430610	SK-N-SH	brain:	n/a	n/a
25	NFIC	chr11:85429941-85430679	SK-N-SH	brain:	n/a	n/a
26	POLR2A	chr11:85429580-85430627	U87	brain:	n/a	n/a
27	JUND	chr11:85429852-85430719	SK-N-SH	brain:	n/a	n/a
28	TEAD4	chr11:85429866-85430738	SK-N-SH	brain:	n/a	n/a
29	NFIC	chr11:85430022-85430741	ECC-1	luminal epithelium:	n/a	n/a
30	BCL3	chr11:85429789-85430630	A549	lung:	n/a	n/a
31	JUND	chr11:85429828-85430756	SK-N-SH	brain:	n/a	n/a
32	MAX	chr11:85429851-85430616	SK-N-SH	brain:	n/a	n/a
33	FOSL1	chr11:85429979-85430654	HCT-116	colon:	n/a	n/a
34	FOSL2	chr11:85429631-85430683	A549	lung:	n/a	n/a
35	MAX	chr11:85429905-85430603	A549	lung:	n/a	n/a
36	TEAD4	chr11:85429939-85430648	ECC-1	luminal epithelium:	n/a	n/a
37	RAD21	chr11:85429945-85430668	A549	lung:	n/a	chr11:85430161-85430175
38	NFIC	chr11:85429754-85430792	SK-N-SH	brain:	n/a	n/a
39	SP1	chr11:85429830-85430758	HCT-116	colon:	n/a	n/a
40	POLR2A	chr11:85429845-85430801	MCF-7	breast:	n/a	n/a
41	TEAD4	chr11:85429904-85430730	A549	lung:	n/a	n/a
42	YY1	chr11:85429677-85430589	SK-N-SH	brain:	n/a	chr11:85430498-85430507
43	NFIC	chr11:85430064-85430710	ECC-1	luminal epithelium:	n/a	n/a
44	POLR2A	chr11:85429887-85430553	Gliobla	brain:	n/a	n/a
45	TBP	chr11:85430379-85430576	H1-hESC	embryonic stem cell:	n/a	n/a
46	TCF12	chr11:85430026-85430682	ECC-1	luminal epithelium:	n/a	n/a
47	EP300	chr11:85429760-85430735	SK-N-SH	brain:	n/a	chr11:85430550-85430564 chr11:85430556-85430570 chr11:85430551-85430565 chr11:85430558-85430572
48	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
49	TEAD4	chr11:85430431-85430924	H1-hESC	embryonic stem cell:	n/a	n/a
50	CEBPB	chr11:85429913-85430649	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:85423310..85426529-chr11:85429130..85432198,3	MCF-7	breast:
2	chr11:85373450..85376919-chr11:85429977..85433486,3	K562	blood:

Variant related genes	Relation type
SYTL2	TF binding region
ENSG00000137504	Chromatin interaction
ENSG00000137501	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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	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
15	nsv555634	chr11:85430397-85464922	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv555635	chr11:85430397-85470893	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS 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

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85397200-85438600	Weak transcription	Colonic Mucosa	Colon
2	chr11:85412000-85436800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr11:85412000-85438000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr11:85417600-85453000	Weak transcription	Gastric	stomach
5	chr11:85418400-85436400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr11:85422600-85448600	Weak transcription	Fetal Intestine Large	intestine
7	chr11:85422800-85448200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr11:85424000-85448600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr11:85427000-85430600	Strong transcription	Rectal Mucosa Donor 31	rectum
10	chr11:85427200-85430600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr11:85427200-85430600	Active TSS	Fetal Muscle Trunk	muscle
12	chr11:85427200-85433000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:85427400-85430600	Active TSS	HSMMtube	muscle
14	chr11:85427800-85430600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:85428200-85430600	Active TSS	HSMM	muscle
16	chr11:85428400-85430600	Active TSS	Brain Angular Gyrus	brain
17	chr11:85428600-85430800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr11:85428600-85431000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:85428600-85432000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:85429000-85430600	Active TSS	Brain Hippocampus Middle	brain
21	chr11:85429000-85430600	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr11:85429000-85430600	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr11:85429400-85430800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:85429400-85431000	Enhancers	HMEC	breast
25	chr11:85429400-85431200	Active TSS	Brain Anterior Caudate	brain
26	chr11:85429400-85432200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:85429600-85430600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr11:85429600-85430600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr11:85429600-85430600	Active TSS	Brain Substantia Nigra	brain
30	chr11:85429600-85430800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:85429600-85430800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:85429600-85430800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:85429600-85430800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:85429600-85430800	Flanking Active TSS	Fetal Muscle Leg	muscle
35	chr11:85429600-85430800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr11:85429600-85432000	Strong transcription	Primary T cells from cord blood	blood
37	chr11:85429800-85430600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr11:85429800-85430600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr11:85429800-85430600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr11:85429800-85430600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:85429800-85430600	Active TSS	Brain Cingulate Gyrus	brain
42	chr11:85429800-85430600	Active TSS	Fetal Brain Female	brain
43	chr11:85429800-85430800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:85429800-85430800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:85429800-85431000	Enhancers	NHEK	skin
46	chr11:85429800-85432000	Enhancers	H1 Cell Line	embryonic stem cell
47	chr11:85430000-85430600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:85430000-85430800	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr11:85430000-85430800	Enhancers	Fetal Stomach	stomach
50	chr11:85430000-85431800	Strong transcription	Sigmoid Colon	Sigmoid Colon

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