Variant report

Variant	rs12260400
Chromosome Location	chr10:22902371-22902372
allele	C/G
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	E2F6	chr10:22902184-22902674	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZNF263	chr10:22901916-22902451	HEK293-T-REx	kidney:	n/a	chr10:22902255-22902276
3	POLR2A	chr10:22902357-22902434	GM12878	blood:	n/a	n/a
4	POLR2A	chr10:22902075-22902445	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:22896470..22900066-chr10:22900666..22904844,7	K562	blood:
2	chr10:22887541..22890233-chr10:22900677..22902748,2	K562	blood:
3	chr10:22898511..22900612-chr10:22900841..22903222,2	MCF-7	breast:
4	chr10:22901103..22903031-chr10:22903361..22905909,2	MCF-7	breast:

Variant related genes	Relation type
PIP4K2A	TF binding region
ENSG00000150867	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11013063	1.00[AMR][1000 genomes]
rs11013064	1.00[AMR][1000 genomes]
rs12243259	1.00[AMR][1000 genomes]
rs12251967	1.00[AMR][1000 genomes]
rs12252048	1.00[AMR][1000 genomes]
rs12256497	1.00[AMR][1000 genomes]
rs12264146	1.00[AMR][1000 genomes]
rs12266247	1.00[AMR][1000 genomes]
rs13376745	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1830947	chr10:22881196-23004381	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22844200-22904800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr10:22858200-22904000	Weak transcription	Colonic Mucosa	Colon
3	chr10:22880000-22906800	Weak transcription	Colon Smooth Muscle	Colon
4	chr10:22887200-22902400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr10:22888800-22905000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr10:22889400-22904400	Weak transcription	Hela-S3	cervix
7	chr10:22891000-22904800	Weak transcription	Right Ventricle	heart
8	chr10:22891200-22904800	Weak transcription	NHLF	lung
9	chr10:22894000-22902600	Weak transcription	Right Atrium	heart
10	chr10:22894000-22906600	Weak transcription	Ovary	ovary
11	chr10:22894200-22904600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr10:22894600-22903000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr10:22894600-22904400	Weak transcription	NHDF-Ad	bronchial
14	chr10:22894600-22904600	Weak transcription	NHEK	skin
15	chr10:22894600-22905000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr10:22894800-22904600	Weak transcription	Adipose Nuclei	Adipose
17	chr10:22894800-22913000	Weak transcription	Fetal Kidney	kidney
18	chr10:22895400-22904600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr10:22895600-22906000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr10:22895800-22904600	Weak transcription	HUVEC	blood vessel
21	chr10:22895800-22904800	Weak transcription	NH-A	brain
22	chr10:22896000-22902600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr10:22896400-22904000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr10:22896400-22904600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr10:22896400-22904600	Weak transcription	A549	lung
26	chr10:22896400-22904800	Weak transcription	Osteobl	bone
27	chr10:22896600-22904600	Weak transcription	HSMM	muscle
28	chr10:22897200-22907000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr10:22897400-22904800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr10:22897600-22904800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr10:22897800-22904000	Weak transcription	Left Ventricle	heart
32	chr10:22897800-22904600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr10:22898000-22904000	Weak transcription	Stomach Mucosa	stomach
34	chr10:22898000-22904400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr10:22898000-22904800	Enhancers	Brain Substantia Nigra	brain
36	chr10:22898000-22904800	Weak transcription	Fetal Lung	lung
37	chr10:22898000-22904800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr10:22898000-22904800	Weak transcription	Fetal Muscle Leg	muscle
39	chr10:22898200-22904600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr10:22898200-22904800	Weak transcription	Fetal Intestine Large	intestine
41	chr10:22898200-22906400	Weak transcription	HSMMtube	muscle
42	chr10:22898200-22908000	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr10:22898400-22904600	Weak transcription	Liver	Liver
44	chr10:22898400-22906800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr10:22898600-22904200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr10:22898600-22904800	Weak transcription	Stomach Smooth Muscle	stomach
47	chr10:22899200-22905000	Enhancers	Brain Cingulate Gyrus	brain
48	chr10:22899400-22904200	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr10:22899400-22909400	Enhancers	Brain Angular Gyrus	brain
50	chr10:22899600-22902600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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