Variant report

Variant	rs73952063
Chromosome Location	chr2:74381986-74381987
allele	A/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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:74366917..74386173-chr2:74421816..74431613,38	K562	blood:
2	chr2:74374900..74376944-chr2:74380234..74382950,2	MCF-7	breast:
3	chr2:74380394..74382298-chr2:74617791..74619822,2	K562	blood:
4	chr2:74380523..74382495-chr2:74424911..74427018,2	MCF-7	breast:
5	chr2:74380730..74383370-chr2:74403446..74406905,3	MCF-7	breast:
6	chr2:74381099..74383205-chr2:74424370..74426513,2	K562	blood:
7	chr2:74380588..74383810-chr2:74403270..74407659,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC073263.1-2	chr2:74375825-74382164	NONHSAT071668

No data

Variant related genes	Relation type
ENSG00000163170	Chromatin interaction
ENSG00000225439	Chromatin interaction
ENSG00000204843	Chromatin interaction
ENSG00000114978	Chromatin interaction
ENSG00000065911	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs56067994	1.00[EUR][1000 genomes]
rs56370917	1.00[EUR][1000 genomes]
rs57421736	1.00[EUR][1000 genomes]
rs61023892	1.00[EUR][1000 genomes]
rs6715861	1.00[EUR][1000 genomes]
rs6749199	1.00[EUR][1000 genomes]
rs73952061	1.00[EUR][1000 genomes]
rs7562660	1.00[EUR][1000 genomes]
rs7598273	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874286	chr2:74323500-74436721	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription 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	76 gene(s)	inside rSNPs	diseases
2	esv3427010	chr2:74351730-74813541	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74375800-74383400	Weak transcription	Psoas Muscle	Psoas
2	chr2:74375800-74391200	Weak transcription	Aorta	Aorta
3	chr2:74375800-74403600	Weak transcription	Stomach Mucosa	stomach
4	chr2:74376000-74384000	Weak transcription	Fetal Intestine Small	intestine
5	chr2:74376000-74384000	Weak transcription	Small Intestine	intestine
6	chr2:74376000-74384200	Weak transcription	Esophagus	oesophagus
7	chr2:74376000-74384200	Weak transcription	Right Ventricle	heart
8	chr2:74376000-74385600	Weak transcription	Gastric	stomach
9	chr2:74376000-74390400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:74376000-74391800	Weak transcription	Colonic Mucosa	Colon
11	chr2:74376000-74405000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:74376200-74382600	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:74376200-74383400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:74376200-74383800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:74376200-74384200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:74376200-74384200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr2:74376200-74384400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:74376200-74384800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:74376200-74386000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:74376200-74386000	Weak transcription	Fetal Heart	heart
21	chr2:74376200-74395200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr2:74376400-74384000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr2:74376400-74400600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:74376600-74382000	Strong transcription	Fetal Muscle Leg	muscle
25	chr2:74376800-74386000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr2:74376800-74386200	Weak transcription	Pancreas	Pancrea
27	chr2:74376800-74391200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:74376800-74395400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr2:74376800-74397200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:74377000-74386200	Weak transcription	Fetal Brain Male	brain
31	chr2:74377200-74400000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:74377400-74382000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr2:74377400-74400400	Strong transcription	Fetal Thymus	thymus
34	chr2:74377600-74392000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:74377600-74399200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:74377600-74399600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:74377600-74399600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:74377600-74399600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:74377600-74399800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:74377800-74382400	Strong transcription	Fetal Muscle Trunk	muscle
41	chr2:74377800-74384800	Strong transcription	HSMM	muscle
42	chr2:74377800-74387400	Strong transcription	NH-A	brain
43	chr2:74377800-74392000	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr2:74377800-74392000	Strong transcription	Dnd41	blood
45	chr2:74377800-74399200	Strong transcription	Primary B cells from peripheral blood	blood
46	chr2:74377800-74399400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:74377800-74399800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr2:74377800-74399800	Strong transcription	Duodenum Mucosa	Duodenum
49	chr2:74377800-74399800	Strong transcription	Placenta	Placenta
50	chr2:74377800-74400000	Strong transcription	HUES64 Cell Line	embryonic stem cell

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