Variant report

Variant	rs73712813
Chromosome Location	chr7:84318013-84318014
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:84312169..84314896-chr7:84317846..84320190,3	K562	blood:
2	chr7:84315326..84318065-chr7:84325058..84327523,3	K562	blood:
3	chr7:84316486..84318065-chr7:84325058..84327513,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs4128625	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4620210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55845074	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56084530	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57104792	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57712948	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58637295	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59938380	1.00[AMR][1000 genomes]
rs59957921	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60638992	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60660018	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73710997	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73712811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73712812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73712814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73712815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73712830	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73712840	0.82[AFR][1000 genomes]
rs73712855	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73712857	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7803277	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv949446	chr7:84003501-84763823	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv888635	chr7:84086502-84344258	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv888636	chr7:84117594-84334498	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1031149	chr7:84144990-84404356	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv888638	chr7:84158180-84334498	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv888639	chr7:84158180-84344258	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv888640	chr7:84168615-84334498	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv888641	chr7:84168615-84453100	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv1017124	chr7:84171466-84318984	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv1023333	chr7:84175381-84318984	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv607712	chr7:84176289-84318483	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv607713	chr7:84176289-84323511	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv1031328	chr7:84182356-84377593	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv1016221	chr7:84183142-84377593	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv521668	chr7:84186159-84346026	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv888643	chr7:84196258-84453100	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv1019814	chr7:84208284-84369045	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
19	esv2762684	chr7:84218035-84444871	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
20	nsv831047	chr7:84231938-84408081	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	nsv888644	chr7:84253690-84386060	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
22	nsv831049	chr7:84277599-84475710	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
23	esv34238	chr7:84279023-84591966	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84317200-84318200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:84317200-84318600	Enhancers	Muscle Satellite Cultured Cells	--
3	chr7:84317200-84318600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:84317200-84318600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:84317200-84318600	Enhancers	NHDF-Ad	bronchial
6	chr7:84317200-84318800	Enhancers	HMEC	breast
7	chr7:84317200-84318800	Enhancers	NHEK	skin
8	chr7:84317200-84319000	Enhancers	HUVEC	blood vessel
9	chr7:84317400-84318200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr7:84317400-84318200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:84317400-84319000	Enhancers	Osteobl	bone
12	chr7:84317600-84318400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr7:84317600-84318600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:84317600-84318800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:84317600-84319000	Enhancers	Hela-S3	cervix

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