Variant report

Variant	rs55879002
Chromosome Location	chr1:213088664-213088665
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:213087453..213089849-chr1:213098017..213100027,2	K562	blood:
2	chr1:212963885..212966841-chr1:213087848..213090181,3	K562	blood:
3	chr1:213088299..213089124-chr10:91087481..91088095,2	Hela-S3	cervix:
4	chr1:212838488..212839107-chr1:213088444..213089233,2	K562	blood:
5	chr1:212923025..212923977-chr1:213088635..213089225,2	K562	blood:
6	chr1:212987850..212988584-chr1:213088350..213088901,2	MCF-7	breast:
7	chr1:212988120..212988960-chr1:213088354..213089047,3	K562	blood:

Variant related genes	Relation type
ENSG00000117697	Chromatin interaction
ENSG00000237980	Chromatin interaction
ENSG00000119917	Chromatin interaction
ENSG00000203705	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11801900	0.80[AFR][1000 genomes]
rs17740000	0.87[EUR][1000 genomes]
rs74140521	1.00[EUR][1000 genomes]
rs7538679	0.80[AFR][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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213073800-213089000	Weak transcription	Pancreas	Pancrea
2	chr1:213079600-213090000	Weak transcription	Right Atrium	heart
3	chr1:213083200-213089000	Active TSS	H9 Cell Line	embryonic stem cell
4	chr1:213086800-213094400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:213087200-213089800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:213088000-213088800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
7	chr1:213088000-213088800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr1:213088000-213088800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr1:213088000-213089000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
10	chr1:213088000-213089200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr1:213088000-213089200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr1:213088000-213089400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr1:213088000-213089800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr1:213088000-213090200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:213088000-213090400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:213088000-213090400	Enhancers	Fetal Brain Male	brain
17	chr1:213088000-213090600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:213088000-213090600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr1:213088000-213090800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr1:213088200-213088800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:213088200-213088800	Enhancers	Fetal Brain Female	brain
22	chr1:213088200-213089000	Enhancers	Brain Germinal Matrix	brain
23	chr1:213088200-213089200	Enhancers	Fetal Muscle Leg	muscle
24	chr1:213088200-213089600	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr1:213088200-213089600	Enhancers	Fetal Heart	heart
26	chr1:213088200-213090200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:213088200-213090600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:213088200-213090600	Enhancers	Fetal Muscle Trunk	muscle
29	chr1:213088400-213088800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:213088400-213088800	Enhancers	Brain Substantia Nigra	brain
31	chr1:213088400-213088800	Enhancers	Fetal Kidney	kidney
32	chr1:213088400-213089000	Enhancers	Fetal Stomach	stomach
33	chr1:213088400-213089600	Flanking Active TSS	A549	lung
34	chr1:213088400-213089800	Enhancers	Brain Hippocampus Middle	brain
35	chr1:213088400-213089800	Enhancers	HSMMtube	muscle
36	chr1:213088400-213090400	Enhancers	Fetal Lung	lung
37	chr1:213088400-213090600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:213088400-213090600	Enhancers	K562	blood
39	chr1:213088400-213090800	Enhancers	GM12878-XiMat	blood
40	chr1:213088600-213088800	Enhancers	Adipose Nuclei	Adipose
41	chr1:213088600-213088800	Enhancers	Brain Anterior Caudate	brain
42	chr1:213088600-213088800	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr1:213088600-213088800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
44	chr1:213088600-213089000	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr1:213088600-213089200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr1:213088600-213089200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:213088600-213089200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:213088600-213089200	Flanking Active TSS	Hela-S3	cervix
49	chr1:213088600-213089200	Flanking Active TSS	HepG2	liver
50	chr1:213088600-213089600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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