Variant report

Variant	rs74134418
Chromosome Location	chr1:185076552-185076553
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185071030..185073503-chr1:185073968..185076694,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs55738529	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55812604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56691510	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58345263	1.00[AMR][1000 genomes]
rs60857974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61128842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61577109	1.00[AMR][1000 genomes]
rs74134413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548396	chr1:185038104-185151378	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv521613	chr1:185071831-185171869	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185018400-185101800	Weak transcription	Fetal Brain Male	brain
2	chr1:185030200-185076600	Weak transcription	Gastric	stomach
3	chr1:185034800-185077000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:185052800-185076600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:185054400-185101800	Weak transcription	A549	lung
6	chr1:185055200-185076600	Weak transcription	Lung	lung
7	chr1:185055400-185096200	Weak transcription	Hela-S3	cervix
8	chr1:185056000-185076800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:185056200-185124200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr1:185056600-185077000	Weak transcription	Thymus	Thymus
11	chr1:185057600-185094600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:185058600-185089000	Weak transcription	Ovary	ovary
13	chr1:185058800-185093600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:185059000-185124800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:185063000-185076600	Weak transcription	Fetal Brain Female	brain
16	chr1:185065800-185088600	Weak transcription	NHDF-Ad	bronchial
17	chr1:185067600-185078400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr1:185067800-185076600	Weak transcription	Aorta	Aorta
19	chr1:185067800-185076600	Weak transcription	Spleen	Spleen
20	chr1:185067800-185076800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:185067800-185095400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:185068000-185076600	Weak transcription	GM12878-XiMat	blood
23	chr1:185068400-185110200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:185068600-185077000	Weak transcription	HUVEC	blood vessel
25	chr1:185068600-185078200	Weak transcription	K562	blood
26	chr1:185069400-185076600	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr1:185069400-185079800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:185069400-185091000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:185069600-185076600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr1:185069600-185076800	Weak transcription	Liver	Liver
31	chr1:185069600-185077000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:185069600-185088200	Weak transcription	Fetal Lung	lung
33	chr1:185070000-185076600	Weak transcription	Fetal Intestine Large	intestine
34	chr1:185070000-185101400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr1:185070200-185088800	Weak transcription	HSMM	muscle
36	chr1:185070400-185089200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr1:185071600-185076600	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr1:185073600-185077000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:185073600-185088200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr1:185073600-185092800	Weak transcription	Fetal Kidney	kidney
41	chr1:185073600-185115000	Weak transcription	NH-A	brain
42	chr1:185073800-185076600	Weak transcription	Adipose Nuclei	Adipose
43	chr1:185073800-185076600	Weak transcription	Placenta	Placenta
44	chr1:185073800-185076800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:185073800-185088600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr1:185073800-185088600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr1:185074000-185076600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:185074000-185076600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:185074000-185076600	Weak transcription	Fetal Muscle Leg	muscle
50	chr1:185074000-185076800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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