Variant report

Variant	rs6531229
Chromosome Location	chr2:20519389-20519390
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20515520..20519760-chr2:20526136..20528429,4	K562	blood:
2	chr2:20487646..20490086-chr2:20519151..20521903,2	K562	blood:
3	chr2:20472858..20474518-chr2:20518038..20520813,2	K562	blood:
4	chr2:20513928..20515849-chr2:20519028..20520953,2	K562	blood:
5	chr2:20423017..20425604-chr2:20519181..20521361,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000055917	Chromatin interaction
ENSG00000115884	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11685960	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11686757	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13394115	0.82[YRI][hapmap]
rs34960190	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4666298	1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[YRI][hapmap];0.86[EUR][1000 genomes]
rs4666380	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6730690	0.89[CEU][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7589798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][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	nsv999153	chr2:20467929-20521954	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1005366	chr2:20478859-20542134	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	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	chr2:20460200-20528600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:20466000-20530400	Strong transcription	Fetal Thymus	thymus
3	chr2:20467000-20522400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:20467200-20526200	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr2:20471800-20522600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr2:20471800-20533800	Strong transcription	Dnd41	blood
7	chr2:20474600-20528600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:20475400-20522400	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr2:20476400-20521000	Strong transcription	Fetal Intestine Large	intestine
10	chr2:20476600-20524800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:20476600-20526600	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr2:20483200-20520200	Strong transcription	Duodenum Mucosa	Duodenum
13	chr2:20489800-20525800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr2:20491400-20522600	Strong transcription	HepG2	liver
15	chr2:20492400-20525800	Strong transcription	Liver	Liver
16	chr2:20499200-20527600	Weak transcription	Small Intestine	intestine
17	chr2:20500200-20522400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:20501000-20519600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:20501600-20525000	Strong transcription	Placenta	Placenta
20	chr2:20503000-20534600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:20505200-20526000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:20505200-20526600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:20505600-20523400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:20506200-20519600	Strong transcription	HSMM	muscle
25	chr2:20507200-20519400	Strong transcription	K562	blood
26	chr2:20507800-20527600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:20508400-20522000	Weak transcription	Lung	lung
28	chr2:20510800-20519400	Strong transcription	Fetal Muscle Trunk	muscle
29	chr2:20510800-20519800	Strong transcription	Fetal Lung	lung
30	chr2:20511200-20520000	Strong transcription	Fetal Muscle Leg	muscle
31	chr2:20511800-20520800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:20513200-20520000	Strong transcription	Thymus	Thymus
33	chr2:20513600-20519600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:20513800-20519800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:20513800-20533000	Weak transcription	Right Ventricle	heart
36	chr2:20514400-20519600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:20514600-20519600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:20514800-20524800	Strong transcription	GM12878-XiMat	blood
39	chr2:20514800-20525000	Strong transcription	Primary hematopoietic stem cells	blood
40	chr2:20515000-20520000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:20515200-20519600	Strong transcription	Hela-S3	cervix
42	chr2:20515200-20519800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:20515200-20525600	Weak transcription	Brain Angular Gyrus	brain
44	chr2:20515200-20526800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:20515200-20527600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr2:20515400-20521000	Strong transcription	A549	lung
47	chr2:20515800-20519400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr2:20515800-20520200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:20515800-20520200	Strong transcription	NHDF-Ad	bronchial
50	chr2:20516000-20519800	Strong transcription	HUES48 Cell Line	embryonic stem cell

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