Variant report

Variant	rs6586153
Chromosome Location	chr10:90657946-90657947
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:90656107-90658222	GM12891	blood:	n/a	n/a

Variant related genes	Relation type
STAMBPL1	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11202875	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12242191	0.91[EUR][1000 genomes]
rs17096285	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17114120	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2147416	0.91[EUR][1000 genomes]
rs3758487	0.91[EUR][1000 genomes]
rs41284112	0.91[EUR][1000 genomes]
rs45473701	0.91[EUR][1000 genomes]
rs59597720	0.91[EUR][1000 genomes]
rs59889518	0.91[EUR][1000 genomes]
rs7077534	1.00[AMR][1000 genomes]
rs7077849	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7077956	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs74147301	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74147448	0.83[EUR][1000 genomes]
rs7904718	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7906786	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7908124	1.00[EUR][1000 genomes];1.00[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	nsv529324	chr10:90198865-90738588	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv831942	chr10:90564697-90730352	Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90641400-90658600	Weak transcription	Brain Angular Gyrus	brain
2	chr10:90641800-90661800	Weak transcription	Thymus	Thymus
3	chr10:90642000-90684800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr10:90642000-90686400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr10:90647400-90675200	Weak transcription	Spleen	Spleen
6	chr10:90647400-90681000	Weak transcription	Aorta	Aorta
7	chr10:90652000-90658200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr10:90652400-90663000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr10:90652600-90660800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr10:90652600-90661400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr10:90652800-90661200	Weak transcription	NHEK	skin
12	chr10:90652800-90661800	Weak transcription	HMEC	breast
13	chr10:90653600-90659200	Enhancers	Fetal Intestine Small	intestine
14	chr10:90654000-90687400	Weak transcription	Right Ventricle	heart
15	chr10:90654200-90661800	Enhancers	Fetal Intestine Large	intestine
16	chr10:90654600-90658800	Weak transcription	Primary B cells from cord blood	blood
17	chr10:90655000-90659000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr10:90655200-90675200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr10:90655200-90701400	Weak transcription	Gastric	stomach
20	chr10:90655400-90658800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr10:90655400-90661200	Weak transcription	Fetal Thymus	thymus
22	chr10:90655800-90658000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr10:90655800-90658600	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr10:90655800-90658800	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr10:90655800-90660600	Weak transcription	Dnd41	blood
26	chr10:90656000-90658000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr10:90656000-90658000	Enhancers	Fetal Lung	lung
28	chr10:90656000-90658000	Enhancers	Stomach Mucosa	stomach
29	chr10:90656200-90658000	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr10:90656200-90658200	Enhancers	Primary T cells fromperipheralblood	blood
31	chr10:90656200-90658400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr10:90656200-90658800	Enhancers	Colonic Mucosa	Colon
33	chr10:90656200-90662000	Enhancers	Primary B cells from peripheral blood	blood
34	chr10:90656400-90659200	Enhancers	Small Intestine	intestine
35	chr10:90656800-90658200	Enhancers	Adipose Nuclei	Adipose
36	chr10:90657000-90659000	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr10:90657000-90660200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr10:90657200-90658600	Enhancers	Brain Anterior Caudate	brain
39	chr10:90657200-90660600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr10:90657200-90660800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr10:90657200-90661400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr10:90657400-90658400	Weak transcription	Brain Substantia Nigra	brain
43	chr10:90657400-90658600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr10:90657400-90658600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr10:90657400-90659000	Flanking Active TSS	GM12878-XiMat	blood
46	chr10:90657400-90661000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr10:90657400-90661400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr10:90657400-90661400	Weak transcription	NH-A	brain
49	chr10:90657400-90664000	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr10:90657400-90667800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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