Variant report

Variant	rs2421678
Chromosome Location	chr2:73964214-73964215
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:73963771..73965386-chr2:74005336..74008448,3	MCF-7	breast:
2	chr2:73962060..73965748-chr2:74053469..74057980,4	K562	blood:
3	chr12:58201131..58203130-chr2:73963168..73964881,2	MCF-7	breast:
4	chr2:73957067..73958868-chr2:73963036..73964665,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124356	Chromatin interaction
ENSG00000144048	Chromatin interaction
ENSG00000144034	Chromatin interaction
ENSG00000135407	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10865400	0.96[EUR][1000 genomes]
rs12478871	0.82[CEU][hapmap]
rs2015477	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2567599	1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs2901466	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35232003	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3860464	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4241255	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4852941	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6546871	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs67567075	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428051	chr2:73717032-74030067	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2757806	chr2:73717032-74078592	Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking 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	36 gene(s)	inside rSNPs	diseases
3	esv2759060	chr2:73717032-74078592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers 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	36 gene(s)	inside rSNPs	diseases
4	nsv1013385	chr2:73822056-74041441	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv874276	chr2:73847024-73964214	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv834260	chr2:73906106-74076520	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv998315	chr2:73919185-74003998	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv1000675	chr2:73919185-74038946	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv1003153	chr2:73927235-73975416	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73963200-73964800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:73963200-73964800	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr2:73963200-73965000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:73963200-73965000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:73963200-73965200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:73963200-73965200	Active TSS	K562	blood
7	chr2:73963400-73964400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr2:73963400-73964600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:73963400-73964800	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr2:73963400-73964800	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr2:73963400-73964800	Active TSS	HMEC	breast
12	chr2:73963400-73965000	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr2:73963400-73965000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:73963400-73965000	Active TSS	Fetal Intestine Large	intestine
15	chr2:73963400-73965000	Active TSS	NHDF-Ad	bronchial
16	chr2:73963400-73965200	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr2:73963400-73965200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:73963400-73965200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:73963400-73965200	Active TSS	A549	lung
20	chr2:73963400-73965200	Active TSS	Hela-S3	cervix
21	chr2:73963400-73965400	Active TSS	NHLF	lung
22	chr2:73963600-73964400	Bivalent/Poised TSS	HepG2	liver
23	chr2:73963600-73964600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr2:73963600-73964600	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr2:73963600-73964600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:73963600-73964800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:73963600-73964800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:73963600-73964800	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr2:73963600-73964800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:73963600-73964800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:73963600-73964800	Active TSS	Fetal Muscle Trunk	muscle
32	chr2:73963600-73964800	Active TSS	Right Atrium	heart
33	chr2:73963600-73965000	Active TSS	H1 Cell Line	embryonic stem cell
34	chr2:73963600-73965000	Active TSS	H9 Cell Line	embryonic stem cell
35	chr2:73963600-73965000	Active TSS	Aorta	Aorta
36	chr2:73963600-73965000	Active TSS	Esophagus	oesophagus
37	chr2:73963600-73965000	Active TSS	Fetal Intestine Small	intestine
38	chr2:73963600-73965000	Active TSS	Left Ventricle	heart
39	chr2:73963600-73965000	Active TSS	Lung	lung
40	chr2:73963600-73965000	Active TSS	Ovary	ovary
41	chr2:73963600-73965000	Active TSS	NHEK	skin
42	chr2:73963600-73965200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
43	chr2:73963600-73965200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:73963600-73965200	Active TSS	Psoas Muscle	Psoas
45	chr2:73963600-73965400	Active TSS	GM12878-XiMat	blood
46	chr2:73963600-73965400	Active TSS	HSMM	muscle
47	chr2:73963800-73964400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr2:73963800-73964400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
49	chr2:73963800-73964800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:73963800-73964800	Active TSS	Muscle Satellite Cultured Cells	--

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