Variant report

Variant	rs573943488
Chromosome Location	chr2:58465674-58465675
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:58463999..58466723-chr2:58466859..58468849,2	K562	blood:
2	chr2:58448319..58453371-chr2:58460380..58466527,5	K562	blood:
3	chr2:58465119..58467411-chr2:58475928..58478281,2	K562	blood:
4	chr2:58269958..58272240-chr2:58464322..58467065,2	K562	blood:
5	chr2:58465064..58466723-chr2:58466859..58468445,2	K562	blood:
6	chr2:58272245..58275889-chr2:58464232..58469335,5	K562	blood:
7	chr2:58444316..58447844-chr2:58463533..58467170,3	K562	blood:

Variant related genes	Relation type
ENSG00000028116	Chromatin interaction
ENSG00000115392	Chromatin interaction
ENSG00000273063	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999042	chr2:58326123-58530903	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv535734	chr2:58326123-58530903	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1007527	chr2:58386271-58477536	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv535735	chr2:58386271-58477536	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv3345369	chr2:58465514-58466016	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58391000-58467000	Weak transcription	HMEC	breast
2	chr2:58416600-58467200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:58432000-58466400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr2:58438600-58466400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:58439000-58467400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:58440000-58467400	Weak transcription	Primary B cells from peripheral blood	blood
7	chr2:58440600-58467400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:58444200-58466200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:58450000-58466200	Weak transcription	HUVEC	blood vessel
10	chr2:58452000-58467400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:58452000-58467400	Weak transcription	NHLF	lung
12	chr2:58453800-58467400	Weak transcription	NHDF-Ad	bronchial
13	chr2:58454600-58466800	Weak transcription	HSMM	muscle
14	chr2:58454800-58466200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr2:58454800-58466400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:58454800-58467400	Weak transcription	Primary B cells from cord blood	blood
17	chr2:58454800-58467400	Weak transcription	Fetal Thymus	thymus
18	chr2:58454800-58467400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr2:58454800-58467400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:58454800-58467400	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr2:58455000-58466200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr2:58455000-58466200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr2:58455000-58466200	Weak transcription	Fetal Intestine Small	intestine
24	chr2:58455000-58466800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:58455000-58466800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:58455000-58467400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:58455000-58467400	Weak transcription	Fetal Stomach	stomach
28	chr2:58455000-58467400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:58455000-58467600	Weak transcription	Left Ventricle	heart
30	chr2:58455000-58467600	Weak transcription	Ovary	ovary
31	chr2:58455000-58468000	Weak transcription	Gastric	stomach
32	chr2:58455000-58468000	Weak transcription	Spleen	Spleen
33	chr2:58455200-58467400	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr2:58455200-58467400	Weak transcription	Fetal Muscle Leg	muscle
35	chr2:58460800-58467400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:58461000-58466200	Weak transcription	Brain Germinal Matrix	brain
37	chr2:58461000-58467800	Weak transcription	Small Intestine	intestine
38	chr2:58461400-58466200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:58462000-58467200	Weak transcription	Osteobl	bone
40	chr2:58462400-58466200	Weak transcription	Liver	Liver
41	chr2:58462400-58467400	Weak transcription	Fetal Heart	heart
42	chr2:58462600-58465800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr2:58462600-58466400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr2:58462600-58466400	Weak transcription	Primary hematopoietic stem cells	blood
45	chr2:58462600-58466800	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr2:58462600-58466800	Weak transcription	Brain Substantia Nigra	brain
47	chr2:58462600-58467400	Weak transcription	Pancreas	Pancrea
48	chr2:58463400-58466000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:58463600-58467400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr2:58464000-58465800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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