Variant report

Variant	rs2502801
Chromosome Location	chr1:161190276-161190277
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:161187330..161192033-chr1:161197583..161201870,4	K562	blood:
2	chr1:161187686..161190489-chr1:161204186..161207080,2	K562	blood:
3	chr1:161168408..161172447-chr1:161188045..161190714,3	K562	blood:
4	chr1:161179772..161182627-chr1:161189790..161192489,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143257	Chromatin interaction
ENSG00000158859	Chromatin interaction
ENSG00000158864	Chromatin interaction
ENSG00000158882	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2502814	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2502816	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	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161172800-161193600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:161182400-161193800	Weak transcription	Small Intestine	intestine
3	chr1:161184400-161195000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:161184400-161195000	Weak transcription	Colon Smooth Muscle	Colon
5	chr1:161184400-161195000	Weak transcription	NHEK	skin
6	chr1:161184600-161195000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:161184600-161195000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr1:161184600-161195000	Weak transcription	Brain Substantia Nigra	brain
9	chr1:161184600-161195800	Weak transcription	Aorta	Aorta
10	chr1:161184600-161195800	Weak transcription	Esophagus	oesophagus
11	chr1:161185000-161194800	Weak transcription	Dnd41	blood
12	chr1:161185000-161195000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr1:161185200-161195000	Weak transcription	A549	lung
14	chr1:161185200-161195200	Weak transcription	Thymus	Thymus
15	chr1:161185400-161195200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:161185400-161195200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:161185400-161195200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:161185600-161195000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:161185600-161195200	Weak transcription	HMEC	breast
20	chr1:161185800-161190800	Enhancers	K562	blood
21	chr1:161185800-161192400	Weak transcription	Fetal Stomach	stomach
22	chr1:161185800-161195000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr1:161185800-161195800	Enhancers	Fetal Intestine Large	intestine
24	chr1:161186000-161194000	Weak transcription	Gastric	stomach
25	chr1:161186000-161195200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:161186400-161190800	Flanking Active TSS	HepG2	liver
27	chr1:161186400-161191000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:161186600-161190800	Enhancers	Fetal Intestine Small	intestine
29	chr1:161186600-161194000	Weak transcription	Stomach Mucosa	stomach
30	chr1:161186800-161194800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr1:161186800-161195000	Weak transcription	Brain Angular Gyrus	brain
32	chr1:161187000-161191800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:161187000-161195000	Weak transcription	Fetal Lung	lung
34	chr1:161187400-161195800	Weak transcription	Lung	lung
35	chr1:161187600-161194200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr1:161187600-161195200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:161187800-161195000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:161187800-161195000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr1:161187800-161195000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr1:161188000-161190800	Weak transcription	Left Ventricle	heart
41	chr1:161188000-161191600	Weak transcription	Placenta	Placenta
42	chr1:161188000-161192000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:161188200-161190800	Strong transcription	Spleen	Spleen
44	chr1:161188200-161195000	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr1:161188200-161195000	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr1:161188400-161191800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:161188400-161192800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr1:161188400-161195000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr1:161188400-161195000	Weak transcription	Adipose Nuclei	Adipose
50	chr1:161188600-161190400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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