Variant report

Variant	rs539235
Chromosome Location	chr1:175810306-175810307
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:175803143..175807498-chr1:175810197..175814751,4	K562	blood:
2	chr1:175810148..175812202-chr1:175822925..175825364,2	K562	blood:
3	chr1:175809420..175810333-chr11:63997780..63998448,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000110011	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs16849314	1.00[AMR][1000 genomes]
rs16849325	1.00[AMR][1000 genomes]
rs16849347	1.00[AMR][1000 genomes]
rs2994686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs476146	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs491240	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs508911	1.00[AMR][1000 genomes]
rs511759	1.00[AMR][1000 genomes]
rs531377	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs535108	1.00[AMR][1000 genomes]
rs545497	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs548159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs556934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs560031	1.00[AMR][1000 genomes]
rs74129347	1.00[EUR][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	esv33328	chr1:175446583-175910001	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv872560	chr1:175648631-175869554	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175804200-175810600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr1:175806600-175817200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:175808200-175811600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:175808800-175811000	Enhancers	Primary hematopoietic stem cells	blood
5	chr1:175808800-175812000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr1:175808800-175812000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:175809000-175810800	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr1:175809000-175812000	Enhancers	Fetal Muscle Leg	muscle
9	chr1:175809200-175810800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr1:175809400-175811600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:175809400-175811800	Enhancers	Fetal Brain Female	brain
12	chr1:175809400-175811800	Enhancers	Fetal Intestine Small	intestine
13	chr1:175809400-175814800	Enhancers	Fetal Intestine Large	intestine
14	chr1:175809600-175810400	Enhancers	Duodenum Mucosa	Duodenum
15	chr1:175809600-175810600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:175809600-175810600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:175809600-175811400	Enhancers	HepG2	liver
18	chr1:175809600-175811600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:175809800-175810400	Weak transcription	Psoas Muscle	Psoas
20	chr1:175810000-175810600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:175810200-175810400	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr1:175810200-175810600	Enhancers	Hela-S3	cervix
23	chr1:175810200-175810800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr1:175810200-175810800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr1:175810200-175811200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:175810200-175811200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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