Variant report

Variant	rs74127651
Chromosome Location	chr1:150482077-150482078
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:150459274..150461316-chr1:150480408..150482138,3	K562	blood:
2	chr1:150336131..150338597-chr1:150480002..150483403,3	MCF-7	breast:
3	chr1:150479471..150482388-chr1:150523973..150526628,2	K562	blood:

Variant related genes	Relation type
ENSG00000143374	Chromatin interaction
ENSG00000143382	Chromatin interaction
ENSG00000163125	Chromatin interaction
ENSG00000264553	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10888383	1.00[AMR][1000 genomes]
rs1241577	1.00[AMR][1000 genomes]
rs2458394	1.00[AMR][1000 genomes]
rs56991218	1.00[AMR][1000 genomes]
rs74124607	1.00[AMR][1000 genomes]
rs74124619	1.00[AMR][1000 genomes]
rs74127650	1.00[AMR][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	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
2	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
3	esv1814231	chr1:150479528-150540117	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150461000-150486800	Weak transcription	Fetal Heart	heart
2	chr1:150462000-150485800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:150468800-150483800	Strong transcription	Brain Germinal Matrix	brain
4	chr1:150471800-150487400	Weak transcription	Fetal Brain Male	brain
5	chr1:150475000-150485400	Strong transcription	Fetal Brain Female	brain
6	chr1:150476200-150486200	Strong transcription	Ovary	ovary
7	chr1:150477800-150487400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:150478200-150487400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr1:150478800-150487200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:150478800-150487400	Weak transcription	Psoas Muscle	Psoas
11	chr1:150478800-150487600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:150479000-150484200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:150479000-150487400	Weak transcription	Fetal Lung	lung
14	chr1:150479000-150487600	Weak transcription	Aorta	Aorta
15	chr1:150479400-150482800	Weak transcription	GM12878-XiMat	blood
16	chr1:150479400-150483400	Weak transcription	Gastric	stomach
17	chr1:150479400-150487400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr1:150479400-150487600	Weak transcription	Fetal Kidney	kidney
19	chr1:150479600-150483800	Weak transcription	Pancreas	Pancrea
20	chr1:150479600-150487200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr1:150479600-150487200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr1:150479600-150487400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr1:150479600-150487400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr1:150479600-150487400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr1:150479600-150487400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:150479600-150487400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr1:150479600-150487400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:150479600-150487400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr1:150479600-150487600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr1:150479800-150482200	Enhancers	Placenta	Placenta
31	chr1:150479800-150485600	Weak transcription	Fetal Thymus	thymus
32	chr1:150479800-150487200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr1:150479800-150487400	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr1:150479800-150487400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr1:150480000-150487200	Weak transcription	Primary B cells from cord blood	blood
36	chr1:150480000-150487200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:150480200-150482200	Enhancers	Lung	lung
38	chr1:150480200-150482600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:150480200-150487200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr1:150480400-150483000	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr1:150480400-150485400	Genic enhancers	Spleen	Spleen
42	chr1:150480400-150487400	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr1:150480600-150487200	Weak transcription	Fetal Intestine Large	intestine
44	chr1:150480600-150487400	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr1:150480800-150483400	Weak transcription	Liver	Liver
46	chr1:150480800-150483400	Weak transcription	Brain Anterior Caudate	brain
47	chr1:150480800-150484200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr1:150480800-150485000	Transcr. at gene 5' and 3'	Esophagus	oesophagus
49	chr1:150480800-150487400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:150480800-150487400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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