Variant report

Variant	rs237431
Chromosome Location	chr1:94021452-94021453
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	chr1:94018925..94022091-chr1:94023784..94027117,4	K562	blood:
2	chr1:94021033..94023229-chr1:94024981..94026718,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1863500	0.85[AMR][1000 genomes]
rs237424	0.85[AMR][1000 genomes]
rs237426	0.85[AMR][1000 genomes]
rs237427	0.85[AMR][1000 genomes]
rs237428	0.85[AMR][1000 genomes]
rs237429	0.85[AMR][1000 genomes]
rs237430	0.85[AMR][1000 genomes]
rs2449377	0.85[AMR][1000 genomes]
rs2493642	0.85[AMR][1000 genomes]
rs2818968	0.85[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	nsv1011853	chr1:93966450-94039005	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93973400-94032000	Weak transcription	Esophagus	oesophagus
2	chr1:93995000-94045000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:94010400-94021800	Weak transcription	Lung	lung
4	chr1:94012800-94024800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr1:94014000-94025200	Weak transcription	Aorta	Aorta
6	chr1:94014600-94025000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:94016000-94025200	Weak transcription	Ovary	ovary
8	chr1:94016800-94031600	Weak transcription	Fetal Stomach	stomach
9	chr1:94017600-94022000	Enhancers	Primary hematopoietic stem cells	blood
10	chr1:94018000-94023800	Weak transcription	Primary B cells from cord blood	blood
11	chr1:94018400-94024600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:94018400-94031600	Weak transcription	Spleen	Spleen
13	chr1:94018600-94021600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:94018600-94024600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:94018600-94024800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:94018600-94031600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:94018600-94037400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:94019000-94021800	Weak transcription	Gastric	stomach
19	chr1:94019000-94021800	Weak transcription	Right Atrium	heart
20	chr1:94019000-94022000	Weak transcription	Right Ventricle	heart
21	chr1:94019000-94023400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr1:94019000-94024000	Weak transcription	Fetal Muscle Leg	muscle
23	chr1:94019000-94025000	Weak transcription	Placenta	Placenta
24	chr1:94019000-94025000	Weak transcription	NHEK	skin
25	chr1:94019000-94025200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:94019000-94025200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:94019000-94025200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:94019000-94026000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr1:94019000-94031800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr1:94019000-94032000	Weak transcription	Brain Germinal Matrix	brain
31	chr1:94019200-94021800	Weak transcription	Small Intestine	intestine
32	chr1:94019200-94022000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:94019200-94025000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr1:94019200-94025000	Weak transcription	Fetal Brain Female	brain
35	chr1:94019200-94025200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:94019200-94025200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:94019200-94031200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr1:94019200-94037400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr1:94019400-94022200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:94019400-94022400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:94019400-94024000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr1:94020000-94022200	Enhancers	Stomach Mucosa	stomach
43	chr1:94020200-94034200	Weak transcription	Colon Smooth Muscle	Colon
44	chr1:94020400-94025200	Weak transcription	Liver	Liver
45	chr1:94020400-94025200	Weak transcription	Fetal Kidney	kidney
46	chr1:94020600-94024200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:94020600-94025000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:94020600-94025000	Weak transcription	NHDF-Ad	bronchial
49	chr1:94020600-94025200	Weak transcription	Adipose Nuclei	Adipose
50	chr1:94020600-94025200	Weak transcription	NHLF	lung

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