Variant report

Variant	rs59218301
Chromosome Location	chr1:94072823-94072824
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	chr1:94070552..94073246-chr1:94081177..94083185,2	MCF-7	breast:
2	chr1:94067522..94070009-chr1:94070817..94072858,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs183539	1.00[EUR][1000 genomes]
rs236338	1.00[EUR][1000 genomes]
rs236339	1.00[EUR][1000 genomes]
rs236340	1.00[EUR][1000 genomes]
rs59592262	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv2755338	chr1:94059579-94176079	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94025600-94073800	Weak transcription	Fetal Brain Female	brain
2	chr1:94057600-94106400	Weak transcription	Primary B cells from cord blood	blood
3	chr1:94060200-94078800	Weak transcription	Colonic Mucosa	Colon
4	chr1:94061200-94078800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:94062600-94073000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr1:94064400-94073800	Weak transcription	Aorta	Aorta
7	chr1:94064400-94074200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:94064800-94073200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:94065000-94073800	Weak transcription	Esophagus	oesophagus
10	chr1:94065000-94073800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:94066200-94073800	Weak transcription	Fetal Stomach	stomach
12	chr1:94066400-94079200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr1:94066400-94079600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:94066600-94073000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr1:94068200-94079200	Genic enhancers	HSMM	muscle
16	chr1:94068800-94075800	Enhancers	HSMMtube	muscle
17	chr1:94069400-94073000	Weak transcription	Placenta	Placenta
18	chr1:94069400-94073200	Weak transcription	Brain Hippocampus Middle	brain
19	chr1:94069400-94074400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:94069600-94075800	Genic enhancers	Hela-S3	cervix
21	chr1:94070000-94073800	Enhancers	Osteobl	bone
22	chr1:94070000-94075200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:94070000-94075800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:94070200-94073800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:94070200-94076000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:94070200-94076800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:94070400-94073400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:94070600-94073200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr1:94070600-94073200	Weak transcription	Spleen	Spleen
30	chr1:94070800-94074000	Weak transcription	Pancreas	Pancrea
31	chr1:94070800-94079200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr1:94071000-94073000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:94071000-94075000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:94071200-94076000	Enhancers	HUVEC	blood vessel
35	chr1:94071400-94073600	Enhancers	HMEC	breast
36	chr1:94071400-94073800	Enhancers	NHEK	skin
37	chr1:94071400-94075400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:94071400-94076000	Enhancers	Right Atrium	heart
39	chr1:94071600-94073000	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr1:94071600-94073200	Weak transcription	Stomach Mucosa	stomach
41	chr1:94071600-94075800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:94071600-94076000	Enhancers	Gastric	stomach
43	chr1:94071600-94079400	Weak transcription	Small Intestine	intestine
44	chr1:94071800-94073200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr1:94071800-94073800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr1:94071800-94073800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr1:94071800-94074000	Weak transcription	Brain Germinal Matrix	brain
48	chr1:94071800-94075400	Enhancers	NH-A	brain
49	chr1:94071800-94078200	Enhancers	Liver	Liver
50	chr1:94071800-94079200	Weak transcription	Duodenum Mucosa	Duodenum

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