Variant report

Variant	rs6754711
Chromosome Location	chr2:99204519-99204520
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99197056..99199023-chr2:99202878..99204637,3	K562	blood:
2	chr2:99203434..99205972-chr2:99224055..99225927,2	MCF-7	breast:
3	chr2:99197454..99199023-chr2:99202878..99204637,2	K562	blood:
4	chr2:99190176..99192364-chr2:99202343..99204670,2	MCF-7	breast:
5	chr2:99204321..99207131-chr2:99222784..99224374,2	K562	blood:
6	chr2:99200414..99202502-chr2:99204381..99208338,3	MCF-7	breast:
7	chr2:99202567..99204615-chr2:99207616..99209504,2	K562	blood:

Variant related genes	Relation type
ENSG00000115446	Chromatin interaction
ENSG00000183513	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10183473	1.00[AMR][1000 genomes]
rs11885661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11890366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11891148	1.00[EUR][1000 genomes]
rs11892907	0.89[AFR][1000 genomes]
rs11901761	1.00[EUR][1000 genomes]
rs13395005	1.00[EUR][1000 genomes]
rs17020532	1.00[EUR][1000 genomes]
rs17030716	1.00[EUR][1000 genomes]
rs17033137	1.00[EUR][1000 genomes]
rs17034163	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17034202	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17034261	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1847551	1.00[EUR][1000 genomes]
rs2271041	1.00[EUR][1000 genomes]
rs2871214	1.00[EUR][1000 genomes]
rs35028575	1.00[EUR][1000 genomes]
rs6710669	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6716095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6727604	1.00[EUR][1000 genomes]
rs6730113	1.00[EUR][1000 genomes]
rs6730953	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6739018	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6749575	1.00[EUR][1000 genomes]
rs6749743	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6756034	1.00[EUR][1000 genomes]
rs6756693	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7561785	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7570509	1.00[EUR][1000 genomes]
rs7585045	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7605114	1.00[AMR][1000 genomes];1.00[EUR][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	nsv1006328	chr2:98977192-99210376	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1013941	chr2:99116255-99317933	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv535834	chr2:99116255-99317933	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99148400-99211200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr2:99149000-99209800	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr2:99149000-99210800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr2:99149200-99210800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:99163000-99215000	Weak transcription	HMEC	breast
6	chr2:99164400-99210800	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr2:99168000-99205200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:99168400-99210400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:99169400-99222600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:99173200-99205000	Strong transcription	Primary T cells from cord blood	blood
11	chr2:99173400-99204800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr2:99174600-99207800	Weak transcription	HUVEC	blood vessel
13	chr2:99176000-99205400	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr2:99176200-99210600	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr2:99176400-99205200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr2:99177400-99210800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:99177400-99213000	Weak transcription	NHDF-Ad	bronchial
18	chr2:99177400-99216200	Weak transcription	NH-A	brain
19	chr2:99177400-99221000	Weak transcription	Psoas Muscle	Psoas
20	chr2:99179800-99206000	Strong transcription	Lung	lung
21	chr2:99181000-99210400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:99181600-99215600	Weak transcription	Small Intestine	intestine
23	chr2:99182400-99204800	Strong transcription	Dnd41	blood
24	chr2:99183200-99208800	Strong transcription	Adipose Nuclei	Adipose
25	chr2:99186400-99210200	Weak transcription	Fetal Brain Male	brain
26	chr2:99186800-99215600	Weak transcription	NHEK	skin
27	chr2:99187200-99216600	Weak transcription	NHLF	lung
28	chr2:99194000-99216200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr2:99194200-99209200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:99194200-99220800	Weak transcription	Fetal Heart	heart
31	chr2:99194800-99206000	Weak transcription	HSMMtube	muscle
32	chr2:99195200-99204600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:99195200-99214800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:99195400-99216200	Weak transcription	Osteobl	bone
35	chr2:99197200-99207600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:99197800-99209400	Strong transcription	GM12878-XiMat	blood
37	chr2:99198000-99205000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr2:99198600-99205000	Strong transcription	Primary B cells from cord blood	blood
39	chr2:99199400-99206600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr2:99199400-99206800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:99199400-99210400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr2:99199400-99214800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr2:99199600-99205400	Weak transcription	Brain Cingulate Gyrus	brain
44	chr2:99199600-99206600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr2:99199600-99207600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:99199600-99210600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr2:99199600-99214800	Weak transcription	K562	blood
48	chr2:99199600-99223400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr2:99200000-99206800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:99200000-99209800	Weak transcription	A549	lung

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