Variant report

Variant	rs2477068
Chromosome Location	chr1:197742987-197742988
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:197740776..197744504-chr1:197869951..197872253,3	K562	blood:
2	chr1:197742347..197745266-chr1:197870109..197873225,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000203724	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2111933	1.00[AMR][1000 genomes]
rs2477064	1.00[AMR][1000 genomes]
rs2488408	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3861932	1.00[AMR][1000 genomes]
rs4915553	1.00[AMR][1000 genomes]
rs6679357	1.00[AMR][1000 genomes]
rs6692898	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427908	chr1:197611569-197767362	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197702800-197743800	Weak transcription	Esophagus	oesophagus
2	chr1:197714400-197743800	Weak transcription	Spleen	Spleen
3	chr1:197714600-197743600	Weak transcription	Ovary	ovary
4	chr1:197719200-197743800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:197721200-197743000	Weak transcription	Fetal Kidney	kidney
6	chr1:197731600-197743200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:197733400-197743000	Weak transcription	A549	lung
8	chr1:197735200-197743800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:197736200-197743200	Weak transcription	Right Ventricle	heart
10	chr1:197737400-197743600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr1:197737800-197743000	Weak transcription	Fetal Muscle Leg	muscle
12	chr1:197739000-197743600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr1:197740200-197743000	Enhancers	Fetal Heart	heart
14	chr1:197740200-197743200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:197740400-197743800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:197740600-197743000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr1:197740600-197743000	Enhancers	Fetal Intestine Large	intestine
18	chr1:197740600-197743400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr1:197740600-197743400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr1:197740800-197743200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr1:197740800-197743400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:197741000-197743000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:197741000-197743000	Enhancers	Adipose Nuclei	Adipose
24	chr1:197741200-197743400	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr1:197741400-197743200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:197741600-197743200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:197741600-197743200	Enhancers	Liver	Liver
28	chr1:197741800-197743600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:197742000-197743000	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr1:197742000-197743000	Enhancers	Fetal Intestine Small	intestine
31	chr1:197742000-197743200	Enhancers	Colon Smooth Muscle	Colon
32	chr1:197742000-197743200	Flanking Active TSS	Dnd41	blood
33	chr1:197742000-197743600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:197742000-197743800	Weak transcription	Left Ventricle	heart
35	chr1:197742000-197743800	Weak transcription	Lung	lung
36	chr1:197742000-197743800	Weak transcription	Pancreas	Pancrea
37	chr1:197742200-197743000	Flanking Active TSS	NHDF-Ad	bronchial
38	chr1:197742200-197743600	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr1:197742200-197743800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr1:197742200-197743800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:197742400-197743000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:197742400-197743000	Enhancers	Primary B cells from cord blood	blood
43	chr1:197742400-197743000	Flanking Active TSS	NHEK	skin
44	chr1:197742400-197743200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:197742400-197743200	Enhancers	Primary B cells from peripheral blood	blood
46	chr1:197742400-197743200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:197742400-197743200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr1:197742400-197743400	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr1:197742400-197743400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr1:197742400-197743400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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