Variant report

Variant	rs577172027
Chromosome Location	chr11:46444130-46444131
allele	A/G
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	chr11:46444072-46444644	MCF-7	breast:	n/a	chr11:46444117-46444127
2	GATA3	chr11:46444128-46444546	MCF-7	breast:	n/a	n/a
3	NR2F2	chr11:46444031-46444694	MCF-7	breast:	n/a	chr11:46444388-46444403
4	GATA3	chr11:46444051-46444518	T-47D	breast:	n/a	chr11:46444117-46444127
5	GATA3	chr11:46443929-46444504	MCF-7	breast:	n/a	chr11:46444117-46444127
6	CTCF	chr11:46444100-46444250	GM12864	blood:	n/a	n/a
7	TCF7L2	chr11:46444126-46444507	MCF-7	breast:	n/a	n/a
8	SIN3AK20	chr11:46444088-46444753	MCF-7	breast:	n/a	n/a
9	FOXA1	chr11:46444118-46444454	T-47D	breast:	n/a	n/a
10	GATA3	chr11:46444047-46444566	T-47D	breast:	n/a	chr11:46444117-46444127

No.	Distal block	Cell Line	Cell type
1	chr11:46443696..46446311-chr11:46446481..46448303,2	K562	blood:
2	chr11:46443817..46445771-chr11:46447587..46449187,2	K562	blood:
3	chr11:46402325..46406202-chr11:46443344..46445537,3	K562	blood:

Variant related genes	Relation type
AMBRA1	TF binding region
ENSG00000110492	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv554202	chr11:46334239-46469900	Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1050614	chr11:46414720-46496732	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv541029	chr11:46442658-46460232	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46417000-46444400	Strong transcription	Fetal Stomach	stomach
2	chr11:46417800-46463400	Weak transcription	Fetal Brain Male	brain
3	chr11:46421000-46444800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr11:46421000-46447000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:46423400-46444600	Strong transcription	Stomach Smooth Muscle	stomach
6	chr11:46426800-46468800	Weak transcription	Psoas Muscle	Psoas
7	chr11:46427000-46444600	Strong transcription	Lung	lung
8	chr11:46429200-46446400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr11:46430200-46450600	Weak transcription	HUVEC	blood vessel
10	chr11:46430200-46456000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr11:46430600-46451600	Weak transcription	NHDF-Ad	bronchial
12	chr11:46430600-46455000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:46433200-46449200	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr11:46433600-46444200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr11:46433600-46466400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr11:46434200-46444800	Strong transcription	Primary B cells from cord blood	blood
17	chr11:46434600-46444200	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:46435000-46446400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr11:46436400-46450600	Weak transcription	Osteobl	bone
20	chr11:46436400-46454400	Weak transcription	A549	lung
21	chr11:46436600-46448600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr11:46436600-46466400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr11:46437000-46452000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr11:46437200-46449200	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr11:46437200-46452600	Weak transcription	HMEC	breast
26	chr11:46437400-46444600	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr11:46437400-46455000	Weak transcription	Stomach Mucosa	stomach
28	chr11:46437600-46452600	Weak transcription	NH-A	brain
29	chr11:46437800-46450600	Weak transcription	HSMM	muscle
30	chr11:46437800-46452400	Weak transcription	Fetal Kidney	kidney
31	chr11:46438000-46444200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr11:46438000-46461400	Strong transcription	Primary T cells from cord blood	blood
33	chr11:46438400-46447800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:46438400-46448600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr11:46438400-46451800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:46438400-46454400	Weak transcription	Brain Angular Gyrus	brain
37	chr11:46438400-46457200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr11:46438400-46459600	Strong transcription	Dnd41	blood
39	chr11:46439000-46452200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr11:46439000-46452800	Weak transcription	Fetal Brain Female	brain
41	chr11:46439600-46449800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr11:46439600-46450600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr11:46439600-46450600	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr11:46439600-46452200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr11:46439600-46454200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr11:46440200-46444600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr11:46440200-46446200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:46440400-46444200	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr11:46440400-46466200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:46440600-46447600	Weak transcription	Brain Substantia Nigra	brain

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