Variant report

Variant	rs4268139
Chromosome Location	chr8:19702001-19702002
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	POLR2A	chr8:19700996-19703681	K562	blood:	n/a	n/a

Variant related genes	Relation type
INTS10	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10101725	0.96[ASN][1000 genomes]
rs11777843	0.88[CHB][hapmap]
rs4434638	0.85[ASN][1000 genomes]
rs6998248	0.93[ASN][1000 genomes]
rs7824064	0.96[ASN][1000 genomes]
rs7838750	0.93[ASN][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	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4268139	INTS10	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19676000-19710200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:19676600-19705800	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr8:19676600-19707200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:19676600-19707800	Strong transcription	Osteobl	bone
5	chr8:19676800-19702400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr8:19676800-19707400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:19677000-19703800	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr8:19677000-19706200	Strong transcription	Skeletal Muscle Female	skeletal muscle
9	chr8:19677000-19706800	Strong transcription	Fetal Muscle Trunk	muscle
10	chr8:19677000-19707000	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr8:19677000-19710600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:19677200-19703000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:19677200-19703800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr8:19677200-19704000	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr8:19677200-19704600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr8:19677200-19706800	Strong transcription	Fetal Thymus	thymus
17	chr8:19677200-19707000	Strong transcription	Adipose Nuclei	Adipose
18	chr8:19677200-19707800	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr8:19677200-19710400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:19677200-19710400	Strong transcription	Placenta	Placenta
21	chr8:19677200-19710600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:19677400-19702400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:19677400-19703000	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr8:19677400-19707000	Strong transcription	Dnd41	blood
25	chr8:19677400-19707200	Strong transcription	Primary T cells from cord blood	blood
26	chr8:19677400-19708400	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr8:19677400-19710400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:19677400-19710800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr8:19677600-19706600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr8:19677600-19707000	Strong transcription	Duodenum Mucosa	Duodenum
31	chr8:19677600-19709400	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr8:19677800-19706800	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr8:19679000-19706800	Strong transcription	HepG2	liver
34	chr8:19679200-19710400	Strong transcription	Liver	Liver
35	chr8:19683600-19703400	Strong transcription	Fetal Intestine Large	intestine
36	chr8:19683600-19710200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr8:19683800-19703400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:19684400-19711400	Strong transcription	A549	lung
39	chr8:19685600-19705800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:19686000-19704800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr8:19686000-19705800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:19686400-19703600	Strong transcription	Stomach Smooth Muscle	stomach
43	chr8:19686400-19705600	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr8:19687400-19706800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr8:19687600-19703400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr8:19687600-19705600	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr8:19687600-19706800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr8:19687600-19709400	Strong transcription	Hela-S3	cervix
49	chr8:19687800-19703400	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr8:19688000-19706000	Strong transcription	HMEC	breast

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