Variant report

Variant	rs12248277
Chromosome Location	chr10:45949490-45949491
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HMGN3	chr10:45949381-45949748	K562	blood:	n/a	n/a
2	MXI1	chr10:45949254-45950242	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr10:45948983-45949877	HL-60	blood:	n/a	n/a
4	POLR2A	chr10:45946458-45953802	K562	blood:	n/a	n/a
5	POLR2A	chr10:45948243-45949833	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr10:45949282-45949686	K562	blood:	n/a	n/a
7	ELF1	chr10:45948915-45949512	GM12878	blood:	n/a	n/a
8	POLR2A	chr10:45949402-45949612	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:45949197..45952104-chr10:45952176..45956457,4	K562	blood:
2	chr10:45948847..45950863-chr10:45951978..45954302,2	K562	blood:
3	chr10:45944247..45946438-chr10:45948788..45951299,2	K562	blood:
4	chr10:45949197..45952068-chr10:45954957..45956623,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000231964	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12253656	1.00[YRI][hapmap];1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430166	chr10:45668894-46148794	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv993428	chr10:45742877-46224333	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv895107	chr10:45850300-45953767	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv895108	chr10:45878908-46224333	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv895109	chr10:45882741-46210665	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv895110	chr10:45912771-45953767	Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv1043536	chr10:45915941-46076235	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45928800-45951000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr10:45929200-45951600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr10:45934000-45951200	Weak transcription	Esophagus	oesophagus
4	chr10:45938600-45967200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr10:45938600-45967200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr10:45941200-45949600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr10:45941600-45949600	Weak transcription	Brain Substantia Nigra	brain
8	chr10:45941600-45950400	Weak transcription	Brain Hippocampus Middle	brain
9	chr10:45941800-45951000	Weak transcription	Placenta	Placenta
10	chr10:45941800-45951600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr10:45942000-45951800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr10:45942400-45950600	Weak transcription	Colon Smooth Muscle	Colon
13	chr10:45942800-45953200	Weak transcription	Spleen	Spleen
14	chr10:45943000-45952800	Weak transcription	Primary B cells from cord blood	blood
15	chr10:45943200-45955000	Weak transcription	Colonic Mucosa	Colon
16	chr10:45943200-45965400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr10:45943400-45954000	Weak transcription	K562	blood
18	chr10:45945600-45951000	Weak transcription	Thymus	Thymus
19	chr10:45945800-45950800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr10:45946200-45954400	Weak transcription	Fetal Brain Female	brain
21	chr10:45946400-45951400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr10:45946800-45952600	Weak transcription	Fetal Lung	lung
23	chr10:45947000-45950200	Weak transcription	Fetal Intestine Large	intestine
24	chr10:45947000-45950800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr10:45947000-45951200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr10:45947200-45952200	Weak transcription	HepG2	liver
27	chr10:45947600-45951600	Weak transcription	Ovary	ovary
28	chr10:45947600-45952800	Weak transcription	Dnd41	blood
29	chr10:45947800-45951000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr10:45947800-45951000	Enhancers	Fetal Heart	heart
31	chr10:45947800-45953400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr10:45948000-45950400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr10:45948000-45963600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr10:45948200-45949800	Strong transcription	Adipose Nuclei	Adipose
35	chr10:45948200-45951000	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr10:45948400-45949800	Strong transcription	Primary hematopoietic stem cells	blood
37	chr10:45948400-45950200	Enhancers	Fetal Muscle Leg	muscle
38	chr10:45948400-45951200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr10:45948400-45952000	Genic enhancers	Fetal Muscle Trunk	muscle
40	chr10:45948400-45955600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr10:45948600-45949800	Strong transcription	Stomach Smooth Muscle	stomach
42	chr10:45948600-45949800	Enhancers	HSMMtube	muscle
43	chr10:45948600-45950400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr10:45948600-45950600	Enhancers	Left Ventricle	heart
45	chr10:45948600-45951000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr10:45948600-45951200	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr10:45948600-45955600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr10:45948600-45959800	Strong transcription	Fetal Intestine Small	intestine
49	chr10:45948600-45959800	Strong transcription	Fetal Stomach	stomach
50	chr10:45948800-45950800	Enhancers	Right Ventricle	heart

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