Variant report

Variant	rs1111510
Chromosome Location	chr2:173648221-173648222
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173647314..173650296-chr2:173654073..173656104,2	MCF-7	breast:
2	chr2:173628252..173630626-chr2:173646925..173649418,2	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1559627	0.87[AFR][1000 genomes]
rs2357806	0.87[AFR][1000 genomes]
rs2357807	0.87[AFR][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	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2760591	chr2:173396905-173719520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173642600-173669800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:173646000-173648800	Enhancers	HMEC	breast
3	chr2:173646600-173648400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:173646600-173648800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:173646600-173648800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:173646800-173648400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr2:173646800-173648600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:173647000-173648600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:173647000-173648600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:173647000-173648600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:173647000-173648600	Enhancers	NHEK	skin
12	chr2:173647000-173648800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:173647000-173649000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:173647200-173648600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:173647200-173648600	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr2:173647200-173648600	Enhancers	HSMM	muscle
17	chr2:173647200-173648800	Enhancers	Fetal Heart	heart
18	chr2:173647400-173648400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:173647400-173648400	Enhancers	Fetal Muscle Trunk	muscle
20	chr2:173647400-173648600	Enhancers	Adipose Nuclei	Adipose
21	chr2:173647400-173648600	Enhancers	HUVEC	blood vessel
22	chr2:173647400-173648800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:173647600-173648400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:173647600-173648400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr2:173647600-173648600	Enhancers	Fetal Lung	lung
26	chr2:173647600-173648600	Enhancers	Fetal Muscle Leg	muscle
27	chr2:173647800-173648400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:173647800-173648400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:173647800-173648400	Enhancers	Brain Cingulate Gyrus	brain
30	chr2:173647800-173648400	Enhancers	Fetal Stomach	stomach
31	chr2:173647800-173648400	Enhancers	Left Ventricle	heart
32	chr2:173647800-173648600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:173647800-173648600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:173647800-173648600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:173647800-173648800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:173647800-173648800	Enhancers	Placenta	Placenta
37	chr2:173648000-173648400	Enhancers	Brain Substantia Nigra	brain
38	chr2:173648000-173648400	Flanking Active TSS	Hela-S3	cervix
39	chr2:173648000-173648400	Flanking Active TSS	HSMMtube	muscle
40	chr2:173648000-173648400	Flanking Active TSS	NHDF-Ad	bronchial
41	chr2:173648000-173648600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr2:173648000-173648600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:173648000-173648600	Enhancers	Fetal Kidney	kidney
44	chr2:173648000-173648600	Flanking Active TSS	NH-A	brain
45	chr2:173648200-173648400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:173648200-173648400	Enhancers	NHLF	lung
47	chr2:173648200-173648600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:173648200-173648600	Bivalent Enhancer	Fetal Brain Male	brain
49	chr2:173648200-173648600	Enhancers	Lung	lung
50	chr2:173648200-173648600	Enhancers	Pancreas	Pancrea

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