Variant report

Variant	rs578224944
Chromosome Location	chr11:85469218-85469219
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr11:85469004-85469485	T-47D	breast:	n/a	n/a
2	POLR2A	chr11:85469092-85469458	MCF-7	breast:	n/a	n/a
3	HDAC2	chr11:85468977-85469517	MCF-7	breast:	n/a	n/a
4	SIN3AK20	chr11:85468749-85469580	MCF-7	breast:	n/a	n/a
5	GATA3	chr11:85468848-85469581	MCF-7	breast:	n/a	n/a
6	FOXA1	chr11:85469061-85469369	T-47D	breast:	n/a	n/a
7	FOXA1	chr11:85469077-85469473	T-47D	breast:	n/a	n/a
8	GATA3	chr11:85469011-85469625	MCF-7	breast:	n/a	n/a
9	MAX	chr11:85468999-85469499	MCF-7	breast:	n/a	n/a
10	GATA3	chr11:85468977-85469501	T-47D	breast:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:85339388..85341161-chr11:85467592..85470414,2	MCF-7	breast:
2	chr11:85438614..85440584-chr11:85468892..85470720,2	MCF-7	breast:
3	chr11:85468435..85470460-chr11:85522182..85523762,2	MCF-7	breast:

No data

Variant related genes	Relation type
SYTL2	TF binding region
ENSG00000137501	Chromatin interaction
ENSG00000171204	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:26 , 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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	nsv1039830	chr11:85433687-85470589	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv1047001	chr11:85433687-85470941	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv1042942	chr11:85433687-85471132	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv1048844	chr11:85434057-85470941	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv1051644	chr11:85434057-85471132	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv555637	chr11:85435730-85470893	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv555639	chr11:85436352-85495269	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv1048750	chr11:85436840-85471132	Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
22	esv2754674	chr11:85436852-85470852	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
23	esv2757459	chr11:85436868-85473347	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
24	nsv1047147	chr11:85459235-85594800	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
25	nsv541114	chr11:85459235-85594800	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
26	esv2762927	chr11:85468051-85559618	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85430400-85480400	Weak transcription	Aorta	Aorta
2	chr11:85448000-85480600	Weak transcription	Fetal Stomach	stomach
3	chr11:85449200-85478400	Weak transcription	Right Ventricle	heart
4	chr11:85453000-85471000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:85455000-85470800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:85459400-85470600	Weak transcription	HSMM	muscle
7	chr11:85459800-85470600	Weak transcription	NHEK	skin
8	chr11:85460600-85483800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:85461600-85471000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr11:85461800-85470800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr11:85462000-85470800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:85462000-85470800	Weak transcription	Osteobl	bone
13	chr11:85462000-85471000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:85463200-85470800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:85463200-85478800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:85463400-85472400	Weak transcription	Fetal Muscle Leg	muscle
17	chr11:85463800-85470400	Weak transcription	NHDF-Ad	bronchial
18	chr11:85463800-85470800	Weak transcription	NHLF	lung
19	chr11:85464400-85471000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:85464600-85469400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr11:85464600-85470000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr11:85464600-85470200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr11:85464600-85470800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:85464600-85470800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:85464600-85471800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr11:85464600-85472600	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr11:85466200-85469800	Enhancers	Stomach Mucosa	stomach
28	chr11:85467200-85469400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:85467600-85469400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr11:85467600-85469800	Enhancers	Duodenum Mucosa	Duodenum
31	chr11:85467600-85470200	Enhancers	Primary T cells fromperipheralblood	blood
32	chr11:85467600-85471800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr11:85467600-85472200	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr11:85467600-85477600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr11:85467800-85470800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:85467800-85472000	Enhancers	Primary T cells from cord blood	blood
37	chr11:85467800-85472200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr11:85468000-85469400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr11:85468000-85470200	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr11:85468000-85472600	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr11:85468200-85470800	Weak transcription	HSMMtube	muscle
42	chr11:85468400-85469400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr11:85468400-85469800	Enhancers	Fetal Kidney	kidney
44	chr11:85468400-85469800	Genic enhancers	Rectal Mucosa Donor 31	rectum
45	chr11:85468600-85469400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:85468800-85471000	Weak transcription	Small Intestine	intestine
47	chr11:85468800-85472000	Weak transcription	Psoas Muscle	Psoas
48	chr11:85469000-85469400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:85469000-85469400	Enhancers	Gastric	stomach
50	chr11:85469200-85469400	Bivalent Enhancer	Fetal Thymus	thymus

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