Variant report

Variant	rs573343027
Chromosome Location	chr3:46950423-46950424
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:46926904..46929286-chr3:46949430..46951210,2	K562	blood:
2	chr3:46942485..46946438-chr3:46946739..46950463,8	K562	blood:
3	chr3:46733415..46736742-chr3:46948490..46952108,3	MCF-7	breast:
4	chr3:46949254..46951552-chr3:47027591..47030154,3	K562	blood:
5	chr3:46949955..46951552-chr3:47027591..47029507,2	K562	blood:
6	chr3:46944395..46946806-chr3:46950039..46952539,2	MCF-7	breast:
7	chr3:46746166..46747117-chr3:46950364..46951554,3	MCF-7	breast:
8	chr3:46949218..46952084-chr3:46985119..46987583,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000178038	Chromatin interaction
ENSG00000160801	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007449	chr3:46652343-46986578	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv536554	chr3:46652343-46986578	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	esv2757869	chr3:46680452-46972489	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	esv2759147	chr3:46680452-46972489	Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv536558	chr3:46706571-47024756	Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv915922	chr3:46768104-47009805	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv876752	chr3:46879831-46967040	Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv876753	chr3:46884552-46957298	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv876754	chr3:46884552-46967040	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv876755	chr3:46895109-47061183	Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv460526	chr3:46935527-47001350	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	esv3402690	chr3:46946948-46951346	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	esv3336694	chr3:46947948-46951446	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	esv3408011	chr3:46949798-46952296	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46934400-46951000	Weak transcription	Psoas Muscle	Psoas
2	chr3:46940400-46950800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:46942000-46950600	Weak transcription	Fetal Intestine Small	intestine
4	chr3:46944200-46950800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr3:46945200-46950600	Weak transcription	Placenta	Placenta
6	chr3:46945600-46950800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:46945600-46950800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:46945600-46951000	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr3:46945600-46951000	Weak transcription	A549	lung
10	chr3:46945800-46950800	Weak transcription	Hela-S3	cervix
11	chr3:46945800-46950800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr3:46945800-46951200	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr3:46947800-46951000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:46948000-46951600	Enhancers	Esophagus	oesophagus
15	chr3:46948400-46951600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr3:46948600-46950600	Weak transcription	Left Ventricle	heart
17	chr3:46949000-46951200	Enhancers	Fetal Brain Male	brain
18	chr3:46949200-46950600	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr3:46949200-46950800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr3:46949400-46951400	Enhancers	Liver	Liver
21	chr3:46949400-46951400	Enhancers	Fetal Kidney	kidney
22	chr3:46949400-46951600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr3:46949600-46951200	Enhancers	HUVEC	blood vessel
24	chr3:46949600-46951400	Enhancers	Fetal Lung	lung
25	chr3:46949600-46951600	Enhancers	HMEC	breast
26	chr3:46949600-46951600	Enhancers	HSMM	muscle
27	chr3:46949600-46951600	Enhancers	HSMMtube	muscle
28	chr3:46949600-46951600	Enhancers	NH-A	brain
29	chr3:46949600-46951600	Enhancers	NHLF	lung
30	chr3:46949800-46950800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr3:46949800-46951000	Bivalent Enhancer	Fetal Muscle Leg	muscle
32	chr3:46949800-46951000	Bivalent Enhancer	Fetal Stomach	stomach
33	chr3:46949800-46951400	Enhancers	Pancreas	Pancrea
34	chr3:46949800-46951600	Enhancers	Brain Cingulate Gyrus	brain
35	chr3:46949800-46951800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr3:46949800-46951800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
37	chr3:46949800-46951800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr3:46949800-46951800	Enhancers	Ovary	ovary
39	chr3:46950000-46950600	Enhancers	Stomach Smooth Muscle	stomach
40	chr3:46950000-46950800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr3:46950000-46951000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr3:46950000-46951000	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr3:46950000-46951200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr3:46950000-46951200	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr3:46950000-46951200	Enhancers	Right Atrium	heart
46	chr3:46950000-46951400	Enhancers	Right Ventricle	heart
47	chr3:46950000-46951600	Enhancers	Gastric	stomach
48	chr3:46950000-46951600	Enhancers	Lung	lung
49	chr3:46950000-46951600	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr3:46950000-46951600	Enhancers	Spleen	Spleen

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