Variant report

Variant	rs73048611
Chromosome Location	chr1:179308221-179308222
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:179301951..179305976-chr1:179306105..179309397,4	K562	blood:
2	chr1:179299213..179301718-chr1:179306207..179308697,2	MCF-7	breast:
3	chr1:179300465..179305924-chr1:179306105..179309151,4	K562	blood:
4	chr1:179303800..179306613-chr1:179306776..179308568,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs56996158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58827015	1.00[AMR][1000 genomes]
rs73046677	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73048613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005278	chr1:179197645-179371395	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179264600-179310200	Weak transcription	Brain Substantia Nigra	brain
2	chr1:179264600-179314000	Weak transcription	Brain Angular Gyrus	brain
3	chr1:179264600-179314000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr1:179264800-179313800	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:179264800-179313800	Weak transcription	Fetal Brain Female	brain
6	chr1:179264800-179334200	Weak transcription	Colon Smooth Muscle	Colon
7	chr1:179266400-179322800	Weak transcription	Small Intestine	intestine
8	chr1:179268400-179312000	Weak transcription	Fetal Thymus	thymus
9	chr1:179272600-179313800	Weak transcription	Brain Anterior Caudate	brain
10	chr1:179273000-179311600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:179275600-179311600	Weak transcription	HUVEC	blood vessel
12	chr1:179280400-179314000	Weak transcription	NHLF	lung
13	chr1:179282000-179313000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:179282400-179313800	Weak transcription	HSMMtube	muscle
15	chr1:179283200-179308600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:179286400-179313800	Weak transcription	Psoas Muscle	Psoas
17	chr1:179290400-179310000	Weak transcription	Aorta	Aorta
18	chr1:179290600-179308800	Weak transcription	Fetal Muscle Leg	muscle
19	chr1:179290800-179314000	Weak transcription	NHEK	skin
20	chr1:179292400-179328000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr1:179293000-179311800	Weak transcription	Fetal Kidney	kidney
22	chr1:179293000-179322600	Weak transcription	Fetal Heart	heart
23	chr1:179293600-179313800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr1:179293800-179311800	Weak transcription	HMEC	breast
25	chr1:179293800-179314000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr1:179294200-179324600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:179295600-179309000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr1:179295600-179314000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr1:179296800-179308600	Weak transcription	NH-A	brain
30	chr1:179296800-179327800	Weak transcription	Colonic Mucosa	Colon
31	chr1:179297400-179313600	Weak transcription	Spleen	Spleen
32	chr1:179297400-179321600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:179297800-179311800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr1:179298600-179311400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:179298600-179324200	Weak transcription	Thymus	Thymus
36	chr1:179299400-179308600	Weak transcription	Fetal Intestine Large	intestine
37	chr1:179299400-179308600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr1:179299400-179310000	Weak transcription	Primary B cells from peripheral blood	blood
39	chr1:179299400-179316800	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr1:179299600-179312400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:179300000-179308600	Weak transcription	A549	lung
42	chr1:179300200-179308600	Weak transcription	GM12878-XiMat	blood
43	chr1:179300200-179313800	Weak transcription	Primary B cells from cord blood	blood
44	chr1:179300200-179314800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:179300400-179334600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr1:179300600-179322400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:179301800-179322800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr1:179302400-179308600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:179303000-179314000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr1:179303200-179310200	Weak transcription	Left Ventricle	heart

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