Variant report

Variant	rs73948708
Chromosome Location	chr2:74433687-74433688
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:74374841..74376472-chr2:74433391..74435276,2	K562	blood:
2	chr2:74345940..74348146-chr2:74432915..74434982,2	MCF-7	breast:
3	chr15:91477891..91478393-chr2:74433246..74433855,2	HCT-116	colon:
4	chr2:74210903..74212994-chr2:74431667..74434283,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235499	Chromatin interaction
ENSG00000257800	Chromatin interaction
ENSG00000163170	Chromatin interaction
ENSG00000224441	Chromatin interaction
ENSG00000225439	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs56067994	0.90[AFR][1000 genomes]
rs56370917	0.88[AFR][1000 genomes]
rs57421736	0.86[AFR][1000 genomes]
rs61023892	0.94[AFR][1000 genomes]
rs6715861	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6737355	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6749199	1.00[AMR][1000 genomes]
rs73948705	0.91[AFR][1000 genomes]
rs73952061	0.85[AFR][1000 genomes]
rs7562660	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv834261	chr2:74391709-74613720	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74427200-74438200	Weak transcription	Fetal Kidney	kidney
2	chr2:74427400-74435400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:74427400-74441000	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:74427400-74441200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:74427400-74448400	Weak transcription	Brain Anterior Caudate	brain
6	chr2:74427400-74453000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:74427400-74453200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:74427400-74460200	Weak transcription	Brain Substantia Nigra	brain
9	chr2:74427400-74462000	Weak transcription	Brain Angular Gyrus	brain
10	chr2:74427400-74484400	Weak transcription	Fetal Lung	lung
11	chr2:74427600-74435200	Weak transcription	Fetal Brain Female	brain
12	chr2:74427600-74435600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:74427600-74436600	Weak transcription	Right Ventricle	heart
14	chr2:74427600-74442600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:74427800-74435000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:74427800-74494200	Weak transcription	Brain Germinal Matrix	brain
17	chr2:74428000-74435200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr2:74428000-74435200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:74428000-74448600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr2:74428600-74449600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:74429000-74435000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr2:74429000-74450600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:74429000-74453200	Weak transcription	Ovary	ovary
24	chr2:74429200-74433800	Genic enhancers	Dnd41	blood
25	chr2:74429200-74452800	Weak transcription	Fetal Heart	heart
26	chr2:74430200-74433800	Genic enhancers	H1 Cell Line	embryonic stem cell
27	chr2:74430200-74433800	Genic enhancers	K562	blood
28	chr2:74431200-74433800	Genic enhancers	HepG2	liver
29	chr2:74431200-74434200	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr2:74431400-74433800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr2:74431400-74433800	Genic enhancers	Aorta	Aorta
32	chr2:74431400-74433800	Genic enhancers	NHEK	skin
33	chr2:74431400-74434000	Enhancers	Small Intestine	intestine
34	chr2:74431400-74434200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:74431400-74434200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:74431400-74434800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr2:74431600-74433800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:74431600-74433800	Genic enhancers	HMEC	breast
39	chr2:74431600-74434000	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr2:74431600-74434200	Enhancers	Colonic Mucosa	Colon
41	chr2:74431600-74434200	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr2:74431800-74435000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr2:74432000-74433800	Genic enhancers	HUES6 Cell Line	embryonic stem cell
44	chr2:74432200-74433800	Genic enhancers	Fetal Thymus	thymus
45	chr2:74432200-74434200	Enhancers	Primary hematopoietic stem cells	blood
46	chr2:74432200-74435200	Enhancers	Primary B cells from peripheral blood	blood
47	chr2:74432200-74441600	Strong transcription	Fetal Muscle Trunk	muscle
48	chr2:74432400-74433800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr2:74432400-74433800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr2:74432400-74434000	Enhancers	Primary neutrophils fromperipheralblood	blood

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