Variant report

Variant	rs12253402
Chromosome Location	chr10:22938865-22938866
allele	C/T
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	chr10:22938780..22940406-chr10:22964065..22965639,2	K562	blood:
2	chr10:22937993..22940131-chr10:22944693..22947159,2	K562	blood:
3	chr10:22937875..22939631-chr10:23001731..23003990,2	K562	blood:
4	chr10:22930057..22932318-chr10:22937347..22939667,3	K562	blood:
5	chr10:22938179..22940547-chr10:22940973..22943233,2	K562	blood:
6	chr10:22937664..22939892-chr10:22939931..22943485,3	MCF-7	breast:
7	chr10:22936873..22940866-chr10:22947347..22949426,3	K562	blood:
8	chr10:22936873..22939042-chr10:22947347..22949237,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000150867	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12261630	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv831809	chr10:22918101-23069676	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22915000-22951800	Weak transcription	Fetal Intestine Small	intestine
2	chr10:22921000-22940400	Weak transcription	Ovary	ovary
3	chr10:22927800-22942800	Enhancers	Brain Anterior Caudate	brain
4	chr10:22929600-22948400	Enhancers	Brain Cingulate Gyrus	brain
5	chr10:22929800-22939800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:22931600-22941000	Enhancers	Brain Angular Gyrus	brain
7	chr10:22932400-22940400	Enhancers	Fetal Thymus	thymus
8	chr10:22932400-22944200	Weak transcription	Brain Germinal Matrix	brain
9	chr10:22933600-22944200	Weak transcription	Fetal Stomach	stomach
10	chr10:22934800-22939400	Enhancers	Dnd41	blood
11	chr10:22934800-22942400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr10:22935000-22939000	Enhancers	Thymus	Thymus
13	chr10:22935000-22945400	Enhancers	Primary B cells from peripheral blood	blood
14	chr10:22935200-22939200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr10:22935200-22953000	Enhancers	Brain Substantia Nigra	brain
16	chr10:22935600-22939000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr10:22936200-22939600	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr10:22936400-22958000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr10:22936600-22942000	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr10:22936600-22943800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr10:22936800-22939200	Flanking Active TSS	GM12878-XiMat	blood
22	chr10:22936800-22939600	Enhancers	K562	blood
23	chr10:22936800-22940200	Weak transcription	Fetal Muscle Leg	muscle
24	chr10:22936800-22941800	Weak transcription	Esophagus	oesophagus
25	chr10:22936800-22944600	Weak transcription	Gastric	stomach
26	chr10:22936800-22944800	Enhancers	Primary B cells from cord blood	blood
27	chr10:22937000-22939200	Weak transcription	Small Intestine	intestine
28	chr10:22937000-22941800	Weak transcription	Aorta	Aorta
29	chr10:22937000-22944800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr10:22937400-22939000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr10:22937400-22939000	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr10:22937400-22939200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr10:22937400-22939200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr10:22937400-22939400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr10:22937400-22943200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr10:22937600-22939000	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr10:22937600-22939200	Enhancers	A549	lung
38	chr10:22937600-22944200	Weak transcription	NHLF	lung
39	chr10:22937800-22939400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr10:22937800-22939800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr10:22937800-22940400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr10:22937800-22940600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr10:22937800-22944400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr10:22937800-22947800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr10:22937800-22951200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr10:22937800-22955200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr10:22938000-22939000	Enhancers	NHDF-Ad	bronchial
48	chr10:22938000-22939200	Enhancers	HUVEC	blood vessel
49	chr10:22938000-22940200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr10:22938000-22940400	Weak transcription	Muscle Satellite Cultured Cells	--

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