Variant report

Variant	rs74134121
Chromosome Location	chr1:184593838-184593839
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184354966..184357743-chr1:184592282..184594908,2	MCF-7	breast:
2	chr1:184592564..184595965-chr1:184599184..184603170,4	MCF-7	breast:
3	chr1:184591709..184594438-chr1:184612713..184614611,2	K562	blood:
4	chr1:184586812..184591239-chr1:184591803..184597596,5	K562	blood:
5	chr1:184593353..184595615-chr1:184598577..184600166,2	K562	blood:

Variant related genes	Relation type
ENSG00000116667	Chromatin interaction
ENSG00000271387	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10158270	1.00[ASN][1000 genomes]
rs12062390	1.00[ASN][1000 genomes]
rs12079052	1.00[ASN][1000 genomes]
rs12079092	1.00[ASN][1000 genomes]
rs12084533	1.00[ASN][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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription 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	10 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv832037	chr1:184568194-184756597	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv1008237	chr1:184583205-184609820	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv525959	chr1:184583294-184595020	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv528925	chr1:184583294-184596584	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184573600-184598800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr1:184578600-184598800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:184580800-184605000	Weak transcription	Fetal Brain Female	brain
4	chr1:184581000-184598800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:184581000-184602200	Weak transcription	Brain Germinal Matrix	brain
6	chr1:184585000-184599600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:184585200-184597600	Weak transcription	Fetal Brain Male	brain
8	chr1:184585200-184611600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:184589200-184594200	Enhancers	Ovary	ovary
10	chr1:184589200-184597200	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr1:184589400-184594200	Enhancers	Colon Smooth Muscle	Colon
12	chr1:184589800-184596200	Enhancers	Psoas Muscle	Psoas
13	chr1:184589800-184598800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:184590600-184595000	Enhancers	Adipose Nuclei	Adipose
15	chr1:184590600-184597200	Enhancers	Left Ventricle	heart
16	chr1:184590800-184596600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr1:184590800-184602200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr1:184590800-184602800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr1:184591000-184596600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:184591400-184594400	Enhancers	HMEC	breast
21	chr1:184591400-184596400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:184591600-184594200	Enhancers	A549	lung
23	chr1:184591600-184595800	Enhancers	Placenta	Placenta
24	chr1:184592000-184594000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:184592000-184595000	Weak transcription	Brain Anterior Caudate	brain
26	chr1:184592000-184595600	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr1:184592000-184596000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:184592000-184596200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr1:184592000-184596400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:184592000-184598800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:184592000-184602400	Weak transcription	Gastric	stomach
32	chr1:184592200-184594200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr1:184592200-184594200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:184592200-184594200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:184592200-184594200	Enhancers	Rectal Smooth Muscle	rectum
36	chr1:184592200-184594600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:184592200-184594800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:184592200-184595000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr1:184592200-184595200	Weak transcription	Colonic Mucosa	Colon
40	chr1:184592200-184598400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:184592200-184599600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:184592200-184602400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:184592200-184602800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr1:184592200-184604800	Weak transcription	Brain Angular Gyrus	brain
45	chr1:184592200-184615800	Weak transcription	Aorta	Aorta
46	chr1:184592400-184595400	Weak transcription	Small Intestine	intestine
47	chr1:184592400-184595400	Weak transcription	Stomach Smooth Muscle	stomach
48	chr1:184592400-184595600	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr1:184592400-184598800	Weak transcription	NHLF	lung
50	chr1:184592800-184594600	Weak transcription	Liver	Liver

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