Variant report

Variant	rs111464380
Chromosome Location	chr3:119385575-119385576
allele	-/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:119384769-119386570	GM12878	blood:	n/a	n/a
2	POLR2A	chr3:119384694-119386118	MCF10A-Er-Src	breast:	n/a	n/a
3	NFATC1	chr3:119385405-119386418	GM12878	blood:	n/a	n/a
4	POLR2A	chr3:119385554-119386399	GM12892	blood:	n/a	n/a
5	PML	chr3:119385020-119386607	GM12878	blood:	n/a	chr3:119385124-119385132
6	MTA3	chr3:119385191-119386627	GM12878	blood:	n/a	n/a
7	STAT5A	chr3:119385557-119386363	GM12878	blood:	n/a	chr3:119386243-119386254
8	POLR2A	chr3:119385369-119386473	GM12892	blood:	n/a	n/a
9	POLR2A	chr3:119383822-119386921	K562	blood:	n/a	n/a
10	NFATC1	chr3:119384347-119386561	GM12878	blood:	n/a	n/a
11	POLR2A	chr3:119385088-119386147	MCF-7	breast:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:119384409..119387165-chr3:119391759..119393266,2	K562	blood:
2	chr3:119383202..119386543-chr3:119393770..119396267,3	MCF-7	breast:
3	chr3:119297190..119298785-chr3:119385064..119387274,2	MCF-7	breast:
4	chr3:119384798..119386464-chr3:119395493..119397743,2	K562	blood:
5	chr3:119383346..119386464-chr3:119395342..119399056,3	K562	blood:
6	chr3:119384220..119388638-chr3:119390311..119393902,4	K562	blood:
7	chr3:119380060..119382164-chr3:119384940..119387375,2	K562	blood:

No data

Variant related genes	Relation type
POPDC2	TF binding region
ENSG00000138495	Chromatin interaction
ENSG00000272967	Chromatin interaction
ENSG00000144843	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv1831824	chr3:119263607-119402474	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1014394	chr3:119360506-119412275	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv460834	chr3:119384163-119458851	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv591390	chr3:119384163-119458851	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119354000-119387600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr3:119356200-119389000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr3:119356800-119390000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr3:119356800-119391800	Weak transcription	Brain Substantia Nigra	brain
5	chr3:119356800-119391800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr3:119357800-119386400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr3:119358000-119390600	Weak transcription	Brain Anterior Caudate	brain
8	chr3:119358000-119391800	Weak transcription	Colonic Mucosa	Colon
9	chr3:119361200-119394400	Weak transcription	Brain Angular Gyrus	brain
10	chr3:119362400-119387400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:119363200-119389400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr3:119363200-119389800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr3:119365200-119387400	Weak transcription	Liver	Liver
14	chr3:119367600-119389200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr3:119367600-119391200	Weak transcription	Fetal Brain Female	brain
16	chr3:119367800-119386600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr3:119367800-119388800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr3:119368000-119386000	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr3:119368200-119388200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr3:119373400-119388800	Weak transcription	Aorta	Aorta
21	chr3:119374800-119389000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr3:119377400-119387200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr3:119377400-119387400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr3:119378800-119385600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr3:119379000-119385600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr3:119379000-119387400	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr3:119379200-119391800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr3:119379200-119392400	Weak transcription	Esophagus	oesophagus
29	chr3:119379200-119392400	Weak transcription	Gastric	stomach
30	chr3:119379400-119385800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr3:119379400-119386000	Weak transcription	Brain Hippocampus Middle	brain
32	chr3:119379400-119388600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr3:119379600-119387400	Weak transcription	Fetal Intestine Large	intestine
34	chr3:119379800-119391800	Weak transcription	Thymus	Thymus
35	chr3:119380000-119385600	Weak transcription	Fetal Thymus	thymus
36	chr3:119380000-119386000	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr3:119380000-119391800	Weak transcription	Lung	lung
38	chr3:119380000-119391800	Weak transcription	Ovary	ovary
39	chr3:119380000-119391800	Weak transcription	Pancreas	Pancrea
40	chr3:119380000-119391800	Weak transcription	Spleen	Spleen
41	chr3:119380000-119392000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr3:119380200-119385800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr3:119380400-119391000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr3:119381000-119392000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr3:119381800-119389400	Weak transcription	A549	lung
46	chr3:119382000-119386000	Weak transcription	Placenta	Placenta
47	chr3:119382000-119388800	Weak transcription	Right Atrium	heart
48	chr3:119382200-119385800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr3:119382200-119388000	Weak transcription	Fetal Lung	lung
50	chr3:119382200-119390600	Weak transcription	H9 Cell Line	embryonic stem cell

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