Variant report

Variant	rs2642273
Chromosome Location	chr10:27815665-27815666
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:27814281..27821266-chr10:27824273..27827197,8	K562	blood:
2	chr10:27791075..27793256-chr10:27815644..27817297,2	K562	blood:
3	chr10:27807125..27810398-chr10:27814464..27816469,3	K562	blood:
4	chr10:27814407..27819485-chr10:27827965..27831348,4	K562	blood:
5	chr10:27808762..27810610-chr10:27813283..27816177,3	K562	blood:
6	chr10:27802914..27806574-chr10:27810162..27816250,5	MCF-7	breast:
7	chr10:27813292..27818525-chr10:27818980..27823484,5	K562	blood:

Variant related genes	Relation type
ENSG00000099246	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12415979	0.83[YRI][hapmap]
rs1886400	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2477315	0.86[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2477317	0.92[CHB][hapmap];1.00[CHD][hapmap];0.80[ASN][1000 genomes]
rs2477343	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2505305	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2642274	0.83[YRI][hapmap]
rs2763300	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2763301	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2763308	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2808279	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8614	chr10:27504487-27828406	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv550241	chr10:27569521-28025771	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1045257	chr10:27572440-27926946	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1053952	chr10:27659365-27915029	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27794200-27817000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr10:27794400-27824000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr10:27794400-27837400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr10:27794800-27822800	Weak transcription	Colonic Mucosa	Colon
5	chr10:27794800-27823200	Weak transcription	Esophagus	oesophagus
6	chr10:27794800-27823200	Weak transcription	Spleen	Spleen
7	chr10:27795200-27816800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr10:27795600-27816800	Weak transcription	Brain Hippocampus Middle	brain
9	chr10:27795800-27822600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr10:27795800-27832600	Weak transcription	Small Intestine	intestine
11	chr10:27800800-27823200	Weak transcription	Brain Anterior Caudate	brain
12	chr10:27801000-27816600	Weak transcription	HUVEC	blood vessel
13	chr10:27801800-27829000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr10:27803200-27818200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr10:27803200-27822600	Weak transcription	NH-A	brain
16	chr10:27803400-27822400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr10:27803400-27823200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr10:27803400-27823800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr10:27803400-27830800	Weak transcription	Hela-S3	cervix
20	chr10:27803800-27817000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr10:27803800-27817200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr10:27804000-27816800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr10:27804000-27817400	Weak transcription	Fetal Muscle Leg	muscle
24	chr10:27804000-27817600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr10:27804000-27822600	Weak transcription	Dnd41	blood
26	chr10:27804000-27823000	Weak transcription	Lung	lung
27	chr10:27804000-27823000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr10:27804000-27823200	Weak transcription	Gastric	stomach
29	chr10:27804000-27823400	Weak transcription	Aorta	Aorta
30	chr10:27804200-27818200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr10:27804200-27822400	Weak transcription	HMEC	breast
32	chr10:27804200-27822600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr10:27804400-27822800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr10:27804600-27816800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr10:27804600-27822600	Weak transcription	Placenta	Placenta
36	chr10:27804600-27823000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr10:27804600-27823000	Weak transcription	Fetal Intestine Large	intestine
38	chr10:27805600-27822800	Weak transcription	Fetal Thymus	thymus
39	chr10:27805800-27818000	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr10:27806000-27823200	Weak transcription	NHEK	skin
41	chr10:27807000-27817400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr10:27807200-27820400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr10:27807600-27816800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr10:27808000-27816600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr10:27811000-27823200	Weak transcription	Thymus	Thymus
46	chr10:27812600-27822600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr10:27813200-27822800	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr10:27813400-27820800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr10:27813400-27823200	Weak transcription	Fetal Intestine Small	intestine
50	chr10:27813600-27815800	Enhancers	Primary T helper cells fromperipheralblood	blood

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