Variant report

Variant	rs6542084
Chromosome Location	chr2:113467920-113467921
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113463027..113465747-chr2:113466375..113467999,2	K562	blood:
2	chr2:113465999..113468016-chr2:113469384..113470949,2	K562	blood:
3	chr2:113385104..113391547-chr2:113463938..113470179,6	K562	blood:
4	chr2:113443028..113446257-chr2:113466353..113468371,4	K562	blood:
5	chr2:113461776..113469381-chr2:113473397..113480932,10	K562	blood:

Variant related genes	Relation type
ENSG00000144130	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2048875	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2048876	0.83[ASN][1000 genomes]
rs2176321	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6542085	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6542087	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7424203	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs908547	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv526301	chr2:113451498-113495785	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
4	esv3458160	chr2:113460280-113484749	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	esv3458161	chr2:113460322-113484724	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	esv3458162	chr2:113460460-113484652	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv441775	chr2:113462399-113478887	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv2755193	chr2:113467769-113478769	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113458800-113469000	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr2:113462000-113468800	Enhancers	Primary hematopoietic stem cells	blood
3	chr2:113462600-113469400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:113462800-113469200	Enhancers	Primary B cells from peripheral blood	blood
5	chr2:113463000-113469000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:113464200-113486400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:113465200-113470600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:113465400-113468800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:113465400-113469000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:113465400-113470400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:113465400-113470600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:113465400-113470600	Weak transcription	HMEC	breast
13	chr2:113465400-113470600	Weak transcription	NHEK	skin
14	chr2:113465600-113468600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:113465600-113470400	Enhancers	K562	blood
16	chr2:113465800-113470600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:113466600-113468000	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr2:113466600-113468000	Enhancers	GM12878-XiMat	blood
19	chr2:113466800-113468200	Enhancers	Primary B cells from cord blood	blood
20	chr2:113467200-113468200	Enhancers	Brain Anterior Caudate	brain
21	chr2:113467200-113468600	Enhancers	Brain Hippocampus Middle	brain
22	chr2:113467200-113468800	Enhancers	Brain Cingulate Gyrus	brain
23	chr2:113467200-113468800	Enhancers	Brain Substantia Nigra	brain
24	chr2:113467400-113469200	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr2:113467600-113468000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:113467600-113470600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:113467800-113470000	Weak transcription	Spleen	Spleen
28	chr2:113467800-113471000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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