Variant report

Variant	rs7606119
Chromosome Location	chr2:149443584-149443585
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr2:149443574-149443899	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:149442220..149444259-chr2:149445451..149447678,2	K562	blood:
2	chr2:149379624..149381823-chr2:149442168..149444080,2	K562	blood:
3	chr2:149401296..149402994-chr2:149443410..149445528,2	K562	blood:

Variant related genes	Relation type
EPC2	TF binding region
ENSG00000135999	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2121431	0.87[AFR][1000 genomes]
rs34444151	1.00[AMR][1000 genomes]
rs7588725	1.00[AMR][1000 genomes]
rs7600923	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	esv2751831	chr2:149151358-150105603	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv917109	chr2:149198443-149948302	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv1827161	chr2:149352353-149475737	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149424800-149448200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:149425400-149457000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:149428600-149457200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:149429200-149477000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:149431000-149448400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:149432200-149447800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:149432200-149457400	Weak transcription	HMEC	breast
8	chr2:149432200-149460200	Weak transcription	Fetal Stomach	stomach
9	chr2:149432400-149447600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr2:149432400-149447800	Weak transcription	Primary B cells from cord blood	blood
11	chr2:149432400-149447800	Weak transcription	Thymus	Thymus
12	chr2:149432400-149454200	Weak transcription	Right Ventricle	heart
13	chr2:149432400-149456400	Weak transcription	Esophagus	oesophagus
14	chr2:149432400-149458600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:149432600-149452200	Weak transcription	Psoas Muscle	Psoas
16	chr2:149432600-149469800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:149432600-149477600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:149433400-149453400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:149433400-149457400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr2:149433600-149451600	Weak transcription	Small Intestine	intestine
21	chr2:149433600-149457400	Weak transcription	HSMM	muscle
22	chr2:149433600-149458400	Weak transcription	Brain Angular Gyrus	brain
23	chr2:149434000-149458400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr2:149434600-149447800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr2:149434800-149458800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr2:149435000-149448000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:149436200-149447800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr2:149436200-149464600	Weak transcription	Pancreas	Pancrea
29	chr2:149436600-149458800	Weak transcription	Left Ventricle	heart
30	chr2:149436600-149477000	Weak transcription	Lung	lung
31	chr2:149437000-149447800	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr2:149437400-149444800	Weak transcription	Ovary	ovary
33	chr2:149437400-149447800	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr2:149438200-149447800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr2:149438200-149448400	Weak transcription	NH-A	brain
36	chr2:149438200-149463200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr2:149438400-149454000	Weak transcription	A549	lung
38	chr2:149438600-149446200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr2:149438600-149451400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:149438600-149457200	Weak transcription	Osteobl	bone
41	chr2:149438800-149448000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:149438800-149448800	Weak transcription	Hela-S3	cervix
43	chr2:149438800-149451400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:149438800-149453600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr2:149438800-149454000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr2:149439000-149448200	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr2:149440600-149459000	Weak transcription	Fetal Kidney	kidney
48	chr2:149440800-149453200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:149441400-149445000	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr2:149441800-149444000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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