Variant report

Variant	rs74127058
Chromosome Location	chr1:150843705-150843706
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:150841045..150846072-chr1:150846132..150851412,6	MCF-7	breast:
2	chr1:150551554..150554237-chr1:150841664..150843892,2	K562	blood:
3	chr1:150842463..150846466-chr1:150846939..150849230,4	K562	blood:
4	chr1:150842463..150846382-chr1:150847289..150850236,4	K562	blood:
5	chr1:150833898..150836074-chr1:150842192..150844989,2	MCF-7	breast:
6	chr1:150843610..150846514-chr1:150847702..150849415,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143384	Chromatin interaction
ENSG00000143437	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10305650	1.00[AFR][1000 genomes]
rs10305658	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10305662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10305675	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10305679	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10305680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10305682	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10305685	0.83[AMR][1000 genomes]
rs10305706	0.83[AMR][1000 genomes]
rs16839888	0.83[AMR][1000 genomes]
rs2867298	0.83[AMR][1000 genomes]
rs35831938	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41496050	0.83[AMR][1000 genomes]
rs55850526	0.83[AMR][1000 genomes]
rs56014497	0.83[AMR][1000 genomes]
rs57303926	0.83[AMR][1000 genomes]
rs74124974	0.83[AMR][1000 genomes]
rs74127010	0.83[AMR][1000 genomes]
rs74127011	0.83[AMR][1000 genomes]
rs74127036	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7513824	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9325979	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829859	chr1:150608894-150937329	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv872418	chr1:150683512-150860471	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
5	nsv872420	chr1:150786038-150847647	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1010875	chr1:150796816-150845827	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
7	nsv2810	chr1:150835173-150879869	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150807400-150847000	Weak transcription	Colonic Mucosa	Colon
2	chr1:150808800-150847000	Weak transcription	Psoas Muscle	Psoas
3	chr1:150809200-150846800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:150809600-150846000	Weak transcription	Pancreas	Pancrea
5	chr1:150810400-150846600	Weak transcription	Fetal Heart	heart
6	chr1:150812000-150847000	Weak transcription	Gastric	stomach
7	chr1:150812400-150846800	Weak transcription	Fetal Kidney	kidney
8	chr1:150812600-150846000	Weak transcription	Small Intestine	intestine
9	chr1:150812600-150846800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:150815400-150846800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:150820600-150846800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr1:150821200-150846600	Weak transcription	Aorta	Aorta
13	chr1:150821200-150846600	Weak transcription	Brain Hippocampus Middle	brain
14	chr1:150821200-150846800	Weak transcription	Brain Anterior Caudate	brain
15	chr1:150821200-150848600	Weak transcription	Spleen	Spleen
16	chr1:150822400-150846800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:150825000-150846600	Weak transcription	K562	blood
18	chr1:150825000-150848000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:150825200-150846600	Weak transcription	Fetal Brain Female	brain
20	chr1:150825200-150846800	Weak transcription	Brain Substantia Nigra	brain
21	chr1:150825200-150846800	Weak transcription	Fetal Brain Male	brain
22	chr1:150825400-150846000	Weak transcription	NHLF	lung
23	chr1:150825400-150846200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:150825600-150846800	Weak transcription	HSMMtube	muscle
25	chr1:150826000-150847800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr1:150826400-150845800	Weak transcription	HepG2	liver
27	chr1:150826600-150846800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr1:150827000-150848200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:150827400-150846600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr1:150827800-150847000	Weak transcription	A549	lung
31	chr1:150828000-150847000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr1:150828400-150845200	Weak transcription	Fetal Intestine Large	intestine
33	chr1:150828400-150847000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:150828400-150847000	Weak transcription	Brain Germinal Matrix	brain
35	chr1:150828600-150846400	Weak transcription	Dnd41	blood
36	chr1:150829400-150844200	Weak transcription	Thymus	Thymus
37	chr1:150829400-150847000	Weak transcription	Right Ventricle	heart
38	chr1:150830000-150847000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr1:150830400-150845800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr1:150830800-150845000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:150830800-150845200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:150830800-150845800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr1:150830800-150846800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr1:150831000-150844200	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr1:150831000-150844400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:150831000-150844400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:150831000-150844400	Weak transcription	HUVEC	blood vessel
48	chr1:150831000-150846400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:150831000-150846600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:150831000-150846600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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