Variant report

Variant	rs73714139
Chromosome Location	chr7:104460238-104460239
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs56305740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73714136	0.88[AFR][1000 genomes]
rs73714137	0.88[AFR][1000 genomes]
rs73714138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73714141	0.92[AFR][1000 genomes];1.00[AMR][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	nsv429790	chr7:104314049-104488049	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv429792	chr7:104400049-104488049	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv5887	chr7:104401250-104491604	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1030875	chr7:104409391-104472647	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1028479	chr7:104409391-104479087	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv528392	chr7:104411273-104466675	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv522743	chr7:104411273-104486707	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv831086	chr7:104422503-104596766	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv1019625	chr7:104429371-104461487	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104440400-104482400	Weak transcription	Fetal Intestine Small	intestine
2	chr7:104455800-104460800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:104456600-104460600	Weak transcription	Brain Hippocampus Middle	brain
4	chr7:104457400-104461600	Weak transcription	Brain Anterior Caudate	brain
5	chr7:104458400-104461000	Weak transcription	Fetal Kidney	kidney
6	chr7:104458400-104463400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr7:104458800-104461200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr7:104459600-104460400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr7:104459600-104461800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:104459800-104460400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr7:104459800-104460400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr7:104459800-104460800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:104459800-104461000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:104459800-104461000	Enhancers	Fetal Lung	lung
15	chr7:104459800-104462000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr7:104459800-104463000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr7:104460000-104460400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr7:104460200-104460400	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr7:104460200-104461200	Weak transcription	H1 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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