Variant report

Variant	rs41264203
Chromosome Location	chr2:10105535-10105536
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10104880..10106485-chr2:10107006..10109152,2	MCF-7	breast:
2	chr2:10104034..10107226-chr2:10183225..10185834,3	K562	blood:
3	chr2:10102444..10109047-chr2:10109192..10115495,9	MCF-7	breast:
4	chr2:10091739..10097867-chr2:10098252..10106254,13	K562	blood:

Variant related genes	Relation type
ENSG00000134317	Chromatin interaction
ENSG00000172059	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11884250	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11888501	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11893694	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11902268	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11902457	1.00[ASN][1000 genomes]
rs16867251	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867254	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867256	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867257	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867261	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1820964	0.82[AFR][1000 genomes]
rs2011516	0.82[AFR][1000 genomes]
rs3791758	0.82[AFR][1000 genomes]
rs41264185	1.00[ASN][1000 genomes]
rs4496316	1.00[ASN][1000 genomes]
rs4613247	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55780001	1.00[ASN][1000 genomes]
rs59658303	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60026782	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60035701	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61221335	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6726950	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6730919	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6731160	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6733974	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6734239	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6735658	1.00[ASN][1000 genomes]
rs6741117	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6744044	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6744047	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6754701	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73913930	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7601896	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv1843231	chr2:9979766-10141191	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv1002769	chr2:10064511-10157028	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv997334	chr2:10080327-10189279	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10092600-10112600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:10092600-10113400	Weak transcription	Left Ventricle	heart
3	chr2:10092800-10110600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:10093200-10105600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:10093200-10110600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:10093600-10112600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:10094800-10110400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:10094800-10124400	Weak transcription	Fetal Intestine Large	intestine
9	chr2:10095000-10112600	Weak transcription	Hela-S3	cervix
10	chr2:10099000-10110000	Strong transcription	Placenta	Placenta
11	chr2:10099000-10115400	Strong transcription	Liver	Liver
12	chr2:10101000-10113200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:10101000-10117000	Strong transcription	HepG2	liver
14	chr2:10101200-10106800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:10101400-10110400	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:10101400-10110400	Weak transcription	Fetal Stomach	stomach
17	chr2:10101400-10144800	Weak transcription	Brain Germinal Matrix	brain
18	chr2:10101600-10110600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:10101600-10113000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr2:10101600-10116400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr2:10101600-10136400	Weak transcription	Brain Angular Gyrus	brain
22	chr2:10101800-10114800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr2:10102200-10110600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:10102200-10136400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:10102400-10116600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr2:10104000-10106000	Strong transcription	Dnd41	blood
27	chr2:10104000-10106400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:10104000-10106800	Strong transcription	Esophagus	oesophagus
29	chr2:10104000-10107000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:10104400-10106000	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr2:10104400-10106200	Strong transcription	Placenta Amnion	Placenta Amnion
32	chr2:10104600-10105600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr2:10104600-10105600	Weak transcription	Adipose Nuclei	Adipose
34	chr2:10104600-10130200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:10104800-10105600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr2:10104800-10106200	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr2:10104800-10107200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr2:10104800-10110600	Weak transcription	Psoas Muscle	Psoas
39	chr2:10104800-10112600	Weak transcription	Fetal Intestine Small	intestine
40	chr2:10104800-10112600	Weak transcription	Gastric	stomach
41	chr2:10105000-10105600	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr2:10105000-10105800	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr2:10105000-10106000	Enhancers	Primary T cells from cord blood	blood
44	chr2:10105000-10106200	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr2:10105000-10108800	Weak transcription	Lung	lung
46	chr2:10105200-10106600	Enhancers	GM12878-XiMat	blood
47	chr2:10105400-10105600	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr2:10105400-10105600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr2:10105400-10105600	Enhancers	Fetal Kidney	kidney
50	chr2:10105400-10105600	Genic enhancers	Pancreas	Pancrea

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