Variant report

Variant	rs12279363
Chromosome Location	chr11:71654398-71654399
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	GATA2	chr11:71654296-71654912	HUVEC	blood vessel:	n/a	chr11:71654472-71654486
2	GATA3	chr11:71654387-71654745	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:71653405..71656260-chr11:71657576..71659642,2	MCF-7	breast:
2	chr11:71641143..71643109-chr11:71654078..71656466,2	MCF-7	breast:
3	chr11:71654014..71655958-chr11:71656574..71658856,2	MCF-7	breast:
4	chr11:71644522..71646628-chr11:71653948..71656589,2	MCF-7	breast:
5	chr11:71627212..71629834-chr11:71654212..71656346,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255296	TF binding region
ENSG00000254469	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12295215	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34175433	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	esv2758276	chr11:71363639-71657576	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv2759836	chr11:71363639-71657576	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv428262	chr11:71363639-71804055	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71641000-71671000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr11:71641200-71670800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr11:71641200-71671400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr11:71641400-71658000	Weak transcription	Lung	lung
5	chr11:71641400-71661600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:71641400-71670800	Weak transcription	Esophagus	oesophagus
7	chr11:71641400-71671000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:71641400-71671000	Weak transcription	Fetal Thymus	thymus
9	chr11:71641400-71671400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr11:71641600-71654400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr11:71641600-71654800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:71641600-71656800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr11:71641600-71658000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:71641600-71659600	Weak transcription	Fetal Kidney	kidney
15	chr11:71641600-71670800	Weak transcription	Spleen	Spleen
16	chr11:71641600-71671400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr11:71641600-71671600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr11:71641600-71671600	Weak transcription	Brain Germinal Matrix	brain
19	chr11:71641600-71671600	Weak transcription	Brain Hippocampus Middle	brain
20	chr11:71641600-71673400	Weak transcription	NHLF	lung
21	chr11:71641800-71655800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:71641800-71671600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr11:71642400-71671000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr11:71642400-71671000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:71642600-71655600	Weak transcription	HMEC	breast
26	chr11:71642600-71671000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:71642600-71671200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr11:71642800-71655800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr11:71642800-71671200	Weak transcription	Dnd41	blood
30	chr11:71642800-71671400	Weak transcription	Fetal Brain Female	brain
31	chr11:71643400-71655400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:71644200-71655400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:71644200-71665600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr11:71645400-71659000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr11:71645600-71658400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:71645600-71658400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr11:71645600-71659600	Weak transcription	Gastric	stomach
38	chr11:71645600-71671200	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr11:71645800-71660200	Weak transcription	Thymus	Thymus
40	chr11:71645800-71660800	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr11:71645800-71671400	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr11:71646000-71656600	Weak transcription	Fetal Intestine Small	intestine
43	chr11:71646000-71658400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:71646200-71655200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:71646600-71658000	Weak transcription	Fetal Intestine Large	intestine
46	chr11:71646600-71658000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr11:71646800-71654400	Weak transcription	HepG2	liver
48	chr11:71648200-71655600	Weak transcription	NHDF-Ad	bronchial
49	chr11:71648400-71655400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr11:71648400-71659400	Weak transcription	Ovary	ovary

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