Variant report

Variant	rs11006185
Chromosome Location	chr10:52335668-52335669
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:52330729..52340229-chr10:52381715..52386294,12	K562	blood:
2	chr10:52334364..52340801-chr10:52380166..52385556,10	K562	blood:
3	chr10:52333380..52335821-chr10:52336012..52337715,2	K562	blood:
4	chr10:52310656..52316983-chr10:52334408..52339466,9	K562	blood:
5	chr10:52318973..52324648-chr10:52334040..52339164,5	K562	blood:
6	chr10:52324915..52329170-chr10:52335171..52340296,4	K562	blood:
7	chr10:52311229..52315083-chr10:52335257..52337670,4	K562	blood:

Variant related genes	Relation type
ENSG00000198964	Chromatin interaction
ENSG00000226200	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10508931	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11006166	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11006179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11006183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11006190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11006191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11006193	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11006194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11006197	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11006200	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11006213	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11006219	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11006222	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11006229	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11006233	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11006237	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11006238	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17496403	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17496500	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2221	0.82[ASN][1000 genomes]
rs2983354	0.82[ASN][1000 genomes]
rs2983357	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2983359	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2983361	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs3011782	0.82[ASN][1000 genomes]
rs3011783	0.82[ASN][1000 genomes]
rs3011786	0.82[ASN][1000 genomes]
rs3011788	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs3011789	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs3011790	0.86[AFR][1000 genomes]
rs3011791	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs3011792	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs3011793	0.85[ASN][1000 genomes]
rs3011794	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs3011797	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs3011801	0.88[ASN][1000 genomes]
rs55841709	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7072826	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7099133	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7921226	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054775	chr10:51595893-52392361	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1051087	chr10:51886486-52447295	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv916214	chr10:51886486-52458983	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv918212	chr10:51886486-52465482	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv817412	chr10:51911034-52432990	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv469522	chr10:52276564-52447589	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv482564	chr10:52276564-52447589	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv8660	chr10:52328259-52346278	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52308000-52337200	Weak transcription	Primary T cells from cord blood	blood
2	chr10:52311000-52335800	Weak transcription	Esophagus	oesophagus
3	chr10:52312800-52335800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr10:52312800-52335800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr10:52313600-52337400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr10:52315200-52337400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr10:52315600-52336000	Weak transcription	GM12878-XiMat	blood
8	chr10:52319200-52335800	Weak transcription	Spleen	Spleen
9	chr10:52322000-52335800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr10:52322000-52337200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr10:52322000-52348600	Weak transcription	Fetal Stomach	stomach
12	chr10:52322800-52336000	Weak transcription	Placenta	Placenta
13	chr10:52324000-52336600	Weak transcription	Thymus	Thymus
14	chr10:52324000-52337400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr10:52324400-52336800	Weak transcription	Primary B cells from cord blood	blood
16	chr10:52324400-52336800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr10:52325400-52336000	Weak transcription	Stomach Mucosa	stomach
18	chr10:52325800-52336000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr10:52327400-52336000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr10:52327600-52335800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr10:52328600-52336000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr10:52329800-52336600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr10:52329800-52341600	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr10:52332000-52336800	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr10:52332200-52335800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr10:52332400-52335800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr10:52332400-52335800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr10:52332400-52335800	Weak transcription	Lung	lung
29	chr10:52332400-52335800	Weak transcription	Ovary	ovary
30	chr10:52332400-52336200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr10:52332400-52336400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr10:52332400-52337400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr10:52332400-52337600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr10:52332400-52337800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr10:52332400-52340200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr10:52332600-52337600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr10:52332600-52343800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr10:52332800-52335800	Weak transcription	Osteobl	bone
39	chr10:52332800-52336000	Weak transcription	Fetal Intestine Large	intestine
40	chr10:52332800-52336800	Weak transcription	Fetal Intestine Small	intestine
41	chr10:52332800-52337400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr10:52332800-52337400	Weak transcription	Aorta	Aorta
43	chr10:52333200-52337400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr10:52333200-52340600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr10:52333400-52341000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr10:52333800-52337600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr10:52333800-52337800	Weak transcription	HepG2	liver
48	chr10:52334400-52337600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr10:52334400-52337800	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr10:52334600-52335800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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