Variant report

Variant	rs17740000
Chromosome Location	chr1:213090165-213090166
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212963885..212966841-chr1:213087848..213090181,3	K562	blood:
2	chr1:213088698..213090352-chr1:213094141..213096256,2	K562	blood:
3	chr1:213088750..213091393-chr1:213108145..213110146,2	K562	blood:

Variant related genes	Relation type
ENSG00000117697	Chromatin interaction
ENSG00000203705	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs55879002	0.87[EUR][1000 genomes]
rs74140521	0.87[EUR][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	nsv1008383	chr1:213025546-213114894	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213086800-213094400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:213088000-213090200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:213088000-213090400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:213088000-213090400	Enhancers	Fetal Brain Male	brain
5	chr1:213088000-213090600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:213088000-213090600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr1:213088000-213090800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr1:213088200-213090200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:213088200-213090600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:213088200-213090600	Enhancers	Fetal Muscle Trunk	muscle
11	chr1:213088400-213090400	Enhancers	Fetal Lung	lung
12	chr1:213088400-213090600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:213088400-213090600	Enhancers	K562	blood
14	chr1:213088400-213090800	Enhancers	GM12878-XiMat	blood
15	chr1:213088600-213090400	Enhancers	Brain Angular Gyrus	brain
16	chr1:213088600-213090400	Enhancers	Placenta	Placenta
17	chr1:213088800-213090200	Weak transcription	Brain Anterior Caudate	brain
18	chr1:213088800-213090800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:213089000-213090400	Enhancers	Right Ventricle	heart
20	chr1:213089000-213090600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:213089000-213090600	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr1:213089000-213090600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:213089200-213090200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:213089200-213090200	Weak transcription	Esophagus	oesophagus
25	chr1:213089200-213090200	Weak transcription	Pancreas	Pancrea
26	chr1:213089200-213090400	Enhancers	Spleen	Spleen
27	chr1:213089400-213090600	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr1:213089400-213091600	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr1:213089600-213090200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:213089600-213090200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr1:213089600-213090400	Enhancers	Primary hematopoietic stem cells	blood
32	chr1:213089600-213090400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:213089600-213090400	Bivalent Enhancer	Fetal Stomach	stomach
34	chr1:213089600-213090400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
35	chr1:213089600-213090600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:213089600-213090600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:213089600-213090600	Enhancers	Ovary	ovary
38	chr1:213089600-213090600	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr1:213089600-213090800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr1:213089800-213090200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:213089800-213090200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:213089800-213090200	Flanking Active TSS	Brain Hippocampus Middle	brain
43	chr1:213089800-213090200	Active TSS	HSMM	muscle
44	chr1:213089800-213090200	Active TSS	Osteobl	bone
45	chr1:213089800-213090400	Active TSS	Stomach Smooth Muscle	stomach
46	chr1:213089800-213090600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr1:213089800-213090600	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr1:213089800-213090600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
49	chr1:213089800-213090600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
50	chr1:213089800-213090600	Enhancers	Fetal Thymus	thymus

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