Variant report

Variant	rs12243444
Chromosome Location	chr10:52340742-52340743
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:52334364..52340801-chr10:52380166..52385556,10	K562	blood:
2	chr10:52337499..52341708-chr10:52345297..52349387,5	K562	blood:
3	chr10:52340715..52342372-chr10:52372792..52375032,2	MCF-7	breast:
4	chr10:52338640..52342298-chr10:52355605..52360278,4	MCF-7	breast:
5	chr10:52340514..52343109-chr10:52378678..52380936,3	K562	blood:
6	chr10:52339840..52341425-chr10:52350029..52352294,2	K562	blood:
7	chr10:52337504..52344093-chr10:52356709..52361052,9	K562	blood:
8	chr10:52338053..52345279-chr10:52380666..52386211,11	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000226200	Chromatin interaction
ENSG00000251950	Chromatin interaction
ENSG00000198964	Chromatin interaction
ENSG00000238523	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10218880	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10218927	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1028534	1.00[CEU][hapmap]
rs11006161	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11006168	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11006177	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11006224	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12241613	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12261465	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12262564	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs12569801	1.00[CEU][hapmap]
rs12569909	1.00[CEU][hapmap]
rs12573520	1.00[CEU][hapmap]
rs13376734	1.00[CHB][hapmap]
rs16937491	1.00[CEU][hapmap]
rs16937771	1.00[CEU][hapmap]
rs16937775	1.00[CEU][hapmap]
rs16937786	1.00[CEU][hapmap]
rs16937874	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3001853	1.00[CHB][hapmap]
rs3001865	1.00[CHB][hapmap]
rs3001866	1.00[CHB][hapmap]
rs3739990	1.00[CEU][hapmap]
rs41427847	1.00[CEU][hapmap]
rs56808429	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58158894	1.00[ASN][1000 genomes]
rs58493447	1.00[EUR][1000 genomes]
rs61595381	1.00[EUR][1000 genomes]
rs66936815	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67025766	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67114363	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67414877	1.00[EUR][1000 genomes]
rs7077555	1.00[CHB][hapmap]
rs7096920	1.00[CHB][hapmap]
rs72803714	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7897345	1.00[CHB][hapmap]
rs7911643	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:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52322000-52348600	Weak transcription	Fetal Stomach	stomach
2	chr10:52329800-52341600	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr10:52332600-52343800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr10:52333400-52341000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr10:52334600-52341200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr10:52335000-52341800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr10:52335000-52343800	Enhancers	Liver	Liver
8	chr10:52335800-52341000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr10:52336000-52340800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr10:52336000-52341200	Enhancers	Fetal Intestine Large	intestine
11	chr10:52336200-52341000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr10:52336200-52341000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:52336200-52341000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr10:52336200-52346000	Weak transcription	Esophagus	oesophagus
15	chr10:52336200-52349000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr10:52336400-52346200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr10:52336400-52348600	Weak transcription	Lung	lung
18	chr10:52336600-52346000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr10:52336600-52346000	Weak transcription	NHEK	skin
20	chr10:52336800-52341000	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr10:52336800-52342600	Weak transcription	A549	lung
22	chr10:52336800-52363000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr10:52337000-52342000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr10:52337000-52342400	Weak transcription	Right Ventricle	heart
25	chr10:52337000-52348000	Weak transcription	Thymus	Thymus
26	chr10:52337400-52342800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr10:52337600-52341800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr10:52337800-52340800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr10:52337800-52342200	Weak transcription	Gastric	stomach
30	chr10:52337800-52346200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr10:52337800-52346400	Weak transcription	Spleen	Spleen
32	chr10:52337800-52347800	Weak transcription	Fetal Thymus	thymus
33	chr10:52337800-52352800	Weak transcription	Fetal Brain Male	brain
34	chr10:52338000-52340800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr10:52338000-52341000	Weak transcription	Primary T cells from cord blood	blood
36	chr10:52338000-52341000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr10:52338000-52341200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr10:52338000-52341400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr10:52338000-52345600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr10:52338000-52346000	Weak transcription	Ovary	ovary
41	chr10:52338000-52346000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr10:52338000-52346200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr10:52338000-52346200	Weak transcription	HUVEC	blood vessel
44	chr10:52338000-52356400	Weak transcription	Fetal Brain Female	brain
45	chr10:52338000-52363800	Weak transcription	Fetal Kidney	kidney
46	chr10:52338000-52367000	Weak transcription	Aorta	Aorta
47	chr10:52338200-52340800	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr10:52338200-52340800	Weak transcription	Right Atrium	heart
49	chr10:52338200-52340800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr10:52338200-52341000	Weak transcription	Brain Angular Gyrus	brain

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