Variant report

Variant	rs73948289
Chromosome Location	chr2:74251781-74251782
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:74247122..74249502-chr2:74251565..74254079,2	MCF-7	breast:
2	chr2:74249742..74252123-chr2:74253295..74256040,2	MCF-7	breast:
3	chr2:74233005..74244618-chr2:74246652..74253562,14	MCF-7	breast:
4	chr2:74250887..74254316-chr2:74256183..74259340,3	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs56247747	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57078518	1.00[AMR][1000 genomes]
rs60232103	1.00[AMR][1000 genomes]
rs73948286	1.00[AMR][1000 genomes]
rs73948287	1.00[AFR][1000 genomes];1.00[AMR][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	esv3584956	chr2:74197109-74317135	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv818048	chr2:74225434-74313080	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74231600-74273800	Weak transcription	A549	lung
2	chr2:74235000-74258400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:74235000-74259200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:74236400-74259400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:74237400-74252800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr2:74237400-74259000	Weak transcription	NHLF	lung
7	chr2:74237600-74252800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:74238000-74252800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:74238600-74258400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:74238800-74258200	Weak transcription	Liver	Liver
11	chr2:74238800-74259600	Weak transcription	HMEC	breast
12	chr2:74240000-74276200	Weak transcription	Hela-S3	cervix
13	chr2:74245800-74253400	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr2:74246000-74253400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr2:74246000-74253400	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr2:74246600-74251800	Enhancers	K562	blood
17	chr2:74246800-74254000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:74247200-74252600	Weak transcription	Fetal Intestine Large	intestine
19	chr2:74247400-74254600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:74248200-74252600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr2:74248400-74253400	Weak transcription	Colonic Mucosa	Colon
22	chr2:74248400-74258200	Weak transcription	Esophagus	oesophagus
23	chr2:74248600-74252800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:74248600-74253000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:74248600-74254800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:74248600-74256000	Weak transcription	Psoas Muscle	Psoas
27	chr2:74248600-74257800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr2:74248600-74258200	Weak transcription	Spleen	Spleen
29	chr2:74248600-74259000	Weak transcription	HSMM	muscle
30	chr2:74248800-74252600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr2:74248800-74252800	Weak transcription	Placenta	Placenta
32	chr2:74248800-74252800	Weak transcription	Stomach Mucosa	stomach
33	chr2:74248800-74253000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr2:74248800-74253400	Weak transcription	Left Ventricle	heart
35	chr2:74248800-74254000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr2:74248800-74256200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr2:74248800-74258400	Weak transcription	Fetal Brain Male	brain
38	chr2:74249000-74252800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr2:74249000-74252800	Weak transcription	Adipose Nuclei	Adipose
40	chr2:74249000-74252800	Weak transcription	HepG2	liver
41	chr2:74249000-74253000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr2:74249000-74253800	Weak transcription	Fetal Lung	lung
43	chr2:74249000-74254000	Weak transcription	Brain Substantia Nigra	brain
44	chr2:74249000-74254600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:74249000-74255000	Weak transcription	Fetal Stomach	stomach
46	chr2:74249000-74256000	Weak transcription	Right Atrium	heart
47	chr2:74249000-74256200	Weak transcription	Brain Angular Gyrus	brain
48	chr2:74249000-74256800	Weak transcription	Brain Cingulate Gyrus	brain
49	chr2:74249200-74251800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr2:74249200-74252600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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