Variant report

Variant	rs828875
Chromosome Location	chr2:74367319-74367320
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:74366695..74368810-chr2:74371621..74373862,2	MCF-7	breast:
2	chr2:74366917..74386173-chr2:74421816..74431613,38	K562	blood:
3	chr2:74366129..74367915-chr2:74374320..74376246,3	MCF-7	breast:
4	chr2:74366787..74371323-chr2:74423574..74427376,7	MCF-7	breast:
5	chr11:33059586..33062379-chr2:74365863..74367363,2	MCF-7	breast:
6	chr2:74347508..74349291-chr2:74367308..74370110,2	K562	blood:
7	chr2:74356810..74359552-chr2:74365465..74371208,7	MCF-7	breast:
8	chr2:74364938..74367765-chr2:74425754..74427875,2	K562	blood:
9	chr2:74367123..74369232-chr2:74374914..74376583,2	MCF-7	breast:
10	chr2:74210394..74212955-chr2:74366832..74369511,2	K562	blood:
11	chr2:74345925..74350118-chr2:74367023..74371456,5	MCF-7	breast:
12	chr2:74307941..74310204-chr2:74366126..74368255,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000065911	Chromatin interaction
ENSG00000235499	Chromatin interaction
ENSG00000163170	Chromatin interaction
ENSG00000176148	Chromatin interaction
ENSG00000225439	Chromatin interaction
ENSG00000257800	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1056528	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1095966	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1095967	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1667600	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1667610	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1667627	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3108163	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4630794	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs702465	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs828852	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs828860	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs828861	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs828887	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs828891	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs828893	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs860455	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][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	nsv874286	chr2:74323500-74436721	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	esv3427010	chr2:74351730-74813541	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
3	nsv525117	chr2:74358901-74374641	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr2:74348200-74367600	Weak transcription	Brain Anterior Caudate	brain
2	chr2:74354400-74373800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:74355200-74373800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:74357600-74373800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:74357800-74367600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:74357800-74373600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:74358200-74373800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:74358600-74367800	Weak transcription	Osteobl	bone
9	chr2:74358600-74368800	Weak transcription	NHDF-Ad	bronchial
10	chr2:74358800-74373800	Weak transcription	HUVEC	blood vessel
11	chr2:74359200-74373600	Weak transcription	Fetal Heart	heart
12	chr2:74359400-74367600	Weak transcription	HSMM	muscle
13	chr2:74359400-74373600	Weak transcription	Primary B cells from cord blood	blood
14	chr2:74359600-74373400	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:74359600-74373800	Weak transcription	Small Intestine	intestine
16	chr2:74359800-74373600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:74359800-74373600	Weak transcription	NH-A	brain
18	chr2:74360000-74369800	Weak transcription	Colonic Mucosa	Colon
19	chr2:74360200-74373600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:74360600-74373600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr2:74360800-74373600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr2:74360800-74373800	Weak transcription	Placenta	Placenta
23	chr2:74360800-74374000	Weak transcription	HSMMtube	muscle
24	chr2:74362000-74371600	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr2:74362000-74373600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:74362200-74367600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:74362200-74367600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:74362200-74367600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:74362200-74367600	Weak transcription	Fetal Intestine Large	intestine
30	chr2:74362200-74367600	Weak transcription	Gastric	stomach
31	chr2:74362200-74367600	Weak transcription	Left Ventricle	heart
32	chr2:74362200-74367600	Weak transcription	Lung	lung
33	chr2:74362200-74367600	Weak transcription	Spleen	Spleen
34	chr2:74362200-74367800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:74362200-74368600	Weak transcription	Pancreas	Pancrea
36	chr2:74362200-74369000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr2:74362200-74369200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:74362200-74371400	Weak transcription	Brain Substantia Nigra	brain
39	chr2:74362200-74373400	Weak transcription	Fetal Lung	lung
40	chr2:74362200-74373600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr2:74362200-74373600	Weak transcription	HMEC	breast
42	chr2:74362200-74374000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr2:74362200-74374600	Weak transcription	Aorta	Aorta
44	chr2:74362400-74367400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:74362400-74367600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr2:74362400-74367600	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr2:74362400-74367600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr2:74362400-74367600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr2:74362400-74367600	Weak transcription	GM12878-XiMat	blood
50	chr2:74362400-74368200	Weak transcription	Monocytes-CD14+_RO01746	blood

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