Variant report

Variant	rs73351835
Chromosome Location	chr7:51084277-51084278
allele	A/C
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	POLR2A	chr7:51084186-51084572	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr7:51080818-51084697	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
ENSG00000228204	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11760981	0.86[ASN][1000 genomes]
rs73351836	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv606907	chr7:50899168-51195380	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2761146	chr7:50975457-51957019	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv1027122	chr7:50984824-51376078	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv538836	chr7:50984824-51376078	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv830999	chr7:51020735-51164809	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1015410	chr7:51061988-51532557	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv538837	chr7:51061988-51532557	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:51078000-51089600	Weak transcription	Gastric	stomach
2	chr7:51078200-51087200	Weak transcription	Lung	lung
3	chr7:51078200-51092200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr7:51078200-51094800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr7:51078200-51095000	Weak transcription	Hela-S3	cervix
6	chr7:51078800-51092000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:51079800-51088000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:51080400-51086800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:51081400-51089600	Weak transcription	Right Atrium	heart
10	chr7:51081400-51092200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:51081800-51093200	Weak transcription	Fetal Intestine Large	intestine
12	chr7:51082000-51092000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:51082200-51092200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr7:51082400-51085000	Weak transcription	Brain Anterior Caudate	brain
15	chr7:51082600-51095200	Weak transcription	Right Ventricle	heart
16	chr7:51082800-51085000	Weak transcription	Liver	Liver
17	chr7:51082800-51085400	Weak transcription	Pancreas	Pancrea
18	chr7:51082800-51091200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:51083000-51084600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:51083000-51089400	Weak transcription	Brain Hippocampus Middle	brain
21	chr7:51083000-51090000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:51083000-51092400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr7:51083200-51084400	Weak transcription	Fetal Stomach	stomach
24	chr7:51083200-51087600	Weak transcription	Fetal Heart	heart
25	chr7:51083200-51088600	Strong transcription	Fetal Intestine Small	intestine
26	chr7:51083200-51092600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr7:51083400-51086000	Strong transcription	Brain Inferior Temporal Lobe	brain
28	chr7:51083600-51092000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr7:51083600-51092400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr7:51084200-51085200	Enhancers	HepG2	liver

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