Variant report

Variant	rs6547995
Chromosome Location	chr2:30367842-30367843
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30361445..30366413-chr2:30367443..30370864,6	MCF-7	breast:
2	chr2:30361415..30365100-chr2:30365958..30368991,4	K562	blood:
3	chr2:30366474..30375732-chr2:30375765..30384167,14	MCF-7	breast:
4	chr2:30363131..30365100-chr2:30367257..30368991,2	K562	blood:

Variant related genes	Relation type
ENSG00000233862	Chromatin interaction
ENSG00000119801	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10171126	0.90[AMR][1000 genomes]
rs10190925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13387960	0.90[AMR][1000 genomes]
rs13388821	0.81[AMR][1000 genomes]
rs13401621	0.90[AMR][1000 genomes]
rs13402417	0.81[AMR][1000 genomes]
rs13403955	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs13412185	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs13414174	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13415390	0.81[AMR][1000 genomes]
rs13415732	0.90[AMR][1000 genomes]
rs13417286	0.90[AMR][1000 genomes]
rs13419838	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13424818	0.81[AMR][1000 genomes]
rs60363102	0.90[AMR][1000 genomes]
rs72861874	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7561610	0.90[AMR][1000 genomes]
rs7583803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1002657	chr2:30339312-30516535	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv1794716	chr2:30356661-30370785	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30358000-30368600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:30362400-30368600	Weak transcription	Thymus	Thymus
3	chr2:30362800-30368000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:30362800-30368600	Weak transcription	GM12878-XiMat	blood
5	chr2:30362800-30368600	Weak transcription	HMEC	breast
6	chr2:30363000-30368400	Weak transcription	NHEK	skin
7	chr2:30363000-30368600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:30363200-30368600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:30363200-30368600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:30366200-30368600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr2:30366400-30368600	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr2:30366600-30368600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:30367000-30368600	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr2:30367200-30368000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:30367600-30368600	Enhancers	Primary T cells fromperipheralblood	blood
16	chr2:30367600-30368600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr2:30367600-30368600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:30367600-30368600	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr2:30367600-30368800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:30367600-30368800	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr2:30367600-30368800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr2:30367600-30368800	Enhancers	Fetal Thymus	thymus
23	chr2:30367800-30368600	Enhancers	Primary T cells from cord blood	blood
24	chr2:30367800-30368600	Enhancers	Primary hematopoietic stem cells	blood
25	chr2:30367800-30368600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr2:30367800-30368600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:30367800-30368800	Enhancers	Primary B cells from peripheral blood	blood

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