Variant report

Variant	rs58608149
Chromosome Location	chr1:211721403-211721404
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:211721060..211723722-chr1:211744392..211746338,2	K562	blood:
2	chr1:211720115..211724286-chr1:211726481..211730427,4	K562	blood:
3	chr1:211721376..211723554-chr1:211750569..211753280,2	K562	blood:
4	chr1:211720646..211723922-chr1:211723928..211727458,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170385	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs74137706	0.81[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	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211716200-211721600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:211716200-211722200	Weak transcription	Spleen	Spleen
3	chr1:211716600-211721600	Weak transcription	Esophagus	oesophagus
4	chr1:211716600-211721600	Weak transcription	Left Ventricle	heart
5	chr1:211716600-211722000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:211716600-211722200	Weak transcription	Fetal Thymus	thymus
7	chr1:211716600-211725000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:211716800-211721600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:211716800-211721600	Weak transcription	Stomach Mucosa	stomach
10	chr1:211716800-211722000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:211716800-211722000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr1:211717400-211721600	Weak transcription	Placenta	Placenta
13	chr1:211719800-211721600	Enhancers	K562	blood
14	chr1:211720200-211726000	Enhancers	Fetal Intestine Small	intestine
15	chr1:211720800-211721800	Weak transcription	Fetal Muscle Leg	muscle
16	chr1:211720800-211723000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:211720800-211723600	Enhancers	Fetal Heart	heart
18	chr1:211720800-211726000	Enhancers	Fetal Intestine Large	intestine
19	chr1:211721000-211721800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:211721000-211722000	Bivalent Enhancer	HepG2	liver
21	chr1:211721000-211722200	Enhancers	Hela-S3	cervix
22	chr1:211721000-211722800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:211721000-211722800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:211721000-211722800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr1:211721000-211723000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr1:211721000-211723000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr1:211721000-211723000	Enhancers	Right Atrium	heart
28	chr1:211721200-211722400	Enhancers	GM12878-XiMat	blood
29	chr1:211721200-211722600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr1:211721200-211722800	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr1:211721200-211723000	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr1:211721400-211721800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr1:211721400-211723200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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