Variant report

Variant	rs74115515
Chromosome Location	chr1:120529253-120529254
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:120515082..120516747-chr1:120527754..120529288,2	MCF-7	breast:
2	chr1:120519289..120523601-chr1:120528205..120531823,5	MCF-7	breast:
3	chr1:120529008..120531622-chr1:120534820..120537508,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs55648721	0.83[AFR][1000 genomes]
rs55787603	0.83[AFR][1000 genomes]
rs55954768	0.83[AFR][1000 genomes]
rs56323802	0.83[AFR][1000 genomes]
rs57257610	0.83[AFR][1000 genomes]
rs57350404	0.83[AFR][1000 genomes]
rs59233270	0.83[AFR][1000 genomes]
rs60540199	0.83[AFR][1000 genomes]
rs74117504	1.00[AFR][1000 genomes]
rs74117566	0.83[AFR][1000 genomes]
rs74117579	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428201	chr1:120267313-120697156	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2757750	chr1:120267313-121226013	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv2758965	chr1:120267313-121226013	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv1816057	chr1:120469050-120697156	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv1818054	chr1:120469050-120697156	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	esv1844863	chr1:120469050-120697156	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	esv1850218	chr1:120469050-120697156	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv427730	chr1:120469050-120697156	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120468600-120532800	Weak transcription	Stomach Mucosa	stomach
2	chr1:120491200-120538800	Weak transcription	Fetal Brain Male	brain
3	chr1:120508600-120529800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:120509000-120533000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr1:120509800-120557600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:120510200-120529600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr1:120510200-120532800	Weak transcription	Brain Anterior Caudate	brain
8	chr1:120510200-120538800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:120510200-120552200	Weak transcription	HUVEC	blood vessel
10	chr1:120510400-120529800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr1:120510800-120529400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr1:120510800-120532800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:120510800-120533000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr1:120510800-120557400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:120511200-120529400	Weak transcription	Left Ventricle	heart
16	chr1:120511600-120557800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr1:120512400-120543600	Weak transcription	Fetal Intestine Small	intestine
18	chr1:120512600-120532800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr1:120514400-120529600	Weak transcription	Fetal Thymus	thymus
20	chr1:120514400-120543400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:120514400-120549400	Weak transcription	Gastric	stomach
22	chr1:120514600-120530600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr1:120515000-120532800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr1:120517400-120529400	Weak transcription	A549	lung
25	chr1:120518000-120529600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr1:120518200-120529600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr1:120518800-120529400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr1:120518800-120533000	Weak transcription	Brain Hippocampus Middle	brain
29	chr1:120521200-120529400	Weak transcription	Pancreas	Pancrea
30	chr1:120521200-120549400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:120523200-120529400	Strong transcription	Primary B cells from peripheral blood	blood
32	chr1:120523600-120529400	Weak transcription	Psoas Muscle	Psoas
33	chr1:120523800-120546800	Weak transcription	Esophagus	oesophagus
34	chr1:120524400-120543600	Weak transcription	Spleen	Spleen
35	chr1:120525600-120530200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr1:120525600-120530800	Weak transcription	Rectal Smooth Muscle	rectum
37	chr1:120525600-120532800	Weak transcription	Fetal Stomach	stomach
38	chr1:120525600-120557800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:120526200-120532800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:120526400-120529800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:120527000-120529600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:120527000-120529800	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr1:120527200-120529400	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr1:120527200-120529400	Genic enhancers	HSMM	muscle
45	chr1:120527200-120529600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:120527200-120529600	Strong transcription	Primary T cells from cord blood	blood
47	chr1:120527200-120529600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:120527200-120529600	Strong transcription	Fetal Muscle Leg	muscle
49	chr1:120527200-120529800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr1:120527200-120529800	Strong transcription	Rectal Mucosa Donor 29	rectum

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