Variant report

Variant	rs9989753
Chromosome Location	chr2:63829466-63829467
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:63822582..63825327-chr2:63828934..63831453,2	MCF-7	breast:
2	chr2:63826813..63829662-chr2:63829983..63831966,2	K562	blood:
3	chr2:63818700..63824856-chr2:63826464..63830770,7	K562	blood:
4	chr2:63814652..63820726-chr2:63822860..63830564,18	K562	blood:
5	chr2:63822280..63824856-chr2:63827175..63830502,4	K562	blood:
6	chr2:63815617..63817971-chr2:63829459..63831382,2	K562	blood:

Variant related genes	Relation type
ENSG00000014641	Chromatin interaction
ENSG00000143951	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10084330	1.00[AMR][1000 genomes]
rs10194684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10211030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12328126	1.00[AMR][1000 genomes]
rs13386582	1.00[AMR][1000 genomes]
rs13391009	1.00[AMR][1000 genomes]
rs13392388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13407873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13410065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13412005	1.00[AMR][1000 genomes]
rs13424234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13425413	1.00[AMR][1000 genomes]
rs13427962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13431016	1.00[AFR][1000 genomes];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	esv1800788	chr2:63473443-63900292	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv1792289	chr2:63812148-63900292	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63816600-63830200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:63816800-63831000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:63817000-63830200	Weak transcription	Esophagus	oesophagus
4	chr2:63817000-63831800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:63817200-63834400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:63817400-63831600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:63818000-63834800	Strong transcription	Fetal Thymus	thymus
8	chr2:63818000-63835400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:63818400-63829800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:63818400-63831000	Weak transcription	Gastric	stomach
11	chr2:63818400-63831800	Weak transcription	Colonic Mucosa	Colon
12	chr2:63818400-63831800	Weak transcription	Small Intestine	intestine
13	chr2:63818600-63834800	Strong transcription	Primary T cells from cord blood	blood
14	chr2:63818600-63835800	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr2:63818800-63831800	Weak transcription	Fetal Brain Male	brain
16	chr2:63818800-63832000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:63819200-63835000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:63819400-63834800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:63819600-63834800	Strong transcription	Fetal Muscle Trunk	muscle
20	chr2:63820200-63834800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr2:63820200-63834800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:63820200-63835200	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr2:63820400-63829600	Strong transcription	HMEC	breast
24	chr2:63820400-63834600	Strong transcription	Primary B cells from peripheral blood	blood
25	chr2:63820400-63834800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:63820400-63835000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:63820400-63835000	Strong transcription	Liver	Liver
28	chr2:63820600-63834200	Strong transcription	A549	lung
29	chr2:63820600-63834800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:63820600-63834800	Strong transcription	Placenta	Placenta
31	chr2:63820600-63835000	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr2:63820800-63834800	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr2:63820800-63835600	Strong transcription	Dnd41	blood
34	chr2:63821200-63834400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:63821200-63834800	Strong transcription	Stomach Smooth Muscle	stomach
36	chr2:63821400-63834600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr2:63821400-63835000	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr2:63821400-63835200	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr2:63821600-63834400	Strong transcription	Osteobl	bone
40	chr2:63821600-63834600	Strong transcription	GM12878-XiMat	blood
41	chr2:63821600-63843000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr2:63821800-63834600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:63822000-63836000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr2:63822400-63831600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr2:63822600-63829600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr2:63823600-63831800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr2:63823800-63834800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr2:63823800-63835800	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr2:63824400-63830000	Strong transcription	Hela-S3	cervix
50	chr2:63824400-63835400	Strong transcription	Primary monocytes fromperipheralblood	blood

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