Variant report

Variant	rs4671521
Chromosome Location	chr2:63841169-63841170
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:63839924..63841875-chr2:64097480..64100299,2	MCF-7	breast:
2	chr2:63835075..63837932-chr2:63839225..63843249,3	K562	blood:
3	chr2:63823578..63825836-chr2:63839966..63841886,2	K562	blood:
4	chr2:63814966..63816928-chr2:63840140..63842095,2	MCF-7	breast:
5	chr2:63823771..63825836-chr2:63839190..63841466,2	K562	blood:
6	chr2:63840506..63842686-chr2:63842776..63844510,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000014641	Chromatin interaction
ENSG00000143951	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12617739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2028885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1800788	chr2:63473443-63900292	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv1792289	chr2:63812148-63900292	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS 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 miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63821600-63843000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:63833600-63841800	Weak transcription	K562	blood
3	chr2:63834200-63842400	Weak transcription	A549	lung
4	chr2:63834400-63841200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:63834400-63841200	Weak transcription	Osteobl	bone
6	chr2:63834400-63841800	Weak transcription	HSMMtube	muscle
7	chr2:63834600-63841200	Weak transcription	HSMM	muscle
8	chr2:63834600-63841400	Weak transcription	NHDF-Ad	bronchial
9	chr2:63834600-63841600	Weak transcription	Hela-S3	cervix
10	chr2:63834800-63841400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:63834800-63841600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:63834800-63842200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr2:63834800-63842400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:63834800-63842600	Weak transcription	Left Ventricle	heart
15	chr2:63835000-63842200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:63835600-63841400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:63836000-63841400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:63839600-63843400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr2:63839800-63842400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:63840000-63843000	Enhancers	Placenta	Placenta
21	chr2:63840000-63843600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:63840000-63844000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr2:63840200-63841600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:63840200-63841600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:63840200-63841600	Enhancers	NHEK	skin
26	chr2:63840200-63842400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:63840200-63843000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr2:63840200-63843800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr2:63840200-63844600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr2:63840400-63841800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr2:63840400-63842200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:63840400-63842400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:63840600-63841400	Enhancers	NH-A	brain
34	chr2:63840600-63841600	Enhancers	Adipose Nuclei	Adipose
35	chr2:63840600-63842200	Enhancers	HMEC	breast
36	chr2:63840600-63842400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:63840600-63843000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:63840600-63844400	Enhancers	Placenta Amnion	Placenta Amnion
39	chr2:63840800-63841400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr2:63840800-63842400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr2:63840800-63842600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:63840800-63842800	Weak transcription	Psoas Muscle	Psoas
43	chr2:63840800-63844600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:63841000-63841200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
45	chr2:63841000-63841200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:63841000-63841400	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr2:63841000-63841400	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr2:63841000-63841800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:63841000-63842000	Enhancers	HepG2	liver
50	chr2:63841000-63843000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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