Variant report

Variant	rs35808857
Chromosome Location	chr7:8195030-8195031
allele	C/T
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	EP300	chr7:8193488-8195389	SK-N-SH	brain:	n/a	chr7:8194536-8194544 chr7:8194112-8194122 chr7:8194834-8194842 chr7:8193791-8193799

Variant related genes	Relation type
ENSG00000265212	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10280313	1.00[ASN][1000 genomes]
rs13226206	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35769423	0.83[AMR][1000 genomes]
rs36099259	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6463771	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917172	chr7:7854632-8807385	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1020686	chr7:8095118-8311985	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv538723	chr7:8095118-8311985	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv949024	chr7:8176301-8522495	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv1031226	chr7:8176311-8569811	Bivalent Enhancer Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv538724	chr7:8176311-8569811	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv887492	chr7:8177689-8513927	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv1026247	chr7:8178837-8527868	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
9	nsv464305	chr7:8179655-8524707	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
10	nsv606050	chr7:8179655-8524707	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
11	nsv1020942	chr7:8179655-8524774	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
12	nsv464307	chr7:8179846-8453313	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
13	nsv606051	chr7:8179846-8453313	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
14	nsv1034583	chr7:8180210-8527868	Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
15	nsv1030373	chr7:8184961-8527868	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
16	nsv949082	chr7:8189594-8494386	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
17	nsv948997	chr7:8189594-8522495	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:8150600-8200000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:8172400-8215800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr7:8176200-8197000	Weak transcription	Stomach Mucosa	stomach
4	chr7:8176400-8200600	Weak transcription	K562	blood
5	chr7:8181200-8201200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr7:8181400-8200000	Weak transcription	Fetal Intestine Small	intestine
7	chr7:8183600-8195400	Weak transcription	Fetal Intestine Large	intestine
8	chr7:8186800-8195600	Weak transcription	Fetal Brain Male	brain
9	chr7:8186800-8208600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:8187000-8201000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:8187200-8200800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:8187400-8196000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr7:8187600-8200600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:8188000-8200000	Weak transcription	Fetal Heart	heart
15	chr7:8189600-8200600	Weak transcription	HUVEC	blood vessel
16	chr7:8190600-8214000	Weak transcription	Primary B cells from cord blood	blood
17	chr7:8191200-8200600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr7:8191800-8199600	Weak transcription	Adipose Nuclei	Adipose
19	chr7:8192400-8198000	Weak transcription	Brain Angular Gyrus	brain
20	chr7:8192400-8201000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr7:8192400-8217800	Weak transcription	Psoas Muscle	Psoas
22	chr7:8192400-8226600	Weak transcription	Fetal Stomach	stomach
23	chr7:8192600-8196400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:8192600-8197400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr7:8192600-8198200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr7:8192600-8199200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:8192600-8200600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr7:8192600-8201200	Weak transcription	Lung	lung
29	chr7:8192600-8201200	Weak transcription	Spleen	Spleen
30	chr7:8192600-8203200	Weak transcription	Right Ventricle	heart
31	chr7:8192600-8207400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr7:8192800-8205200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:8192800-8241400	Weak transcription	Pancreas	Pancrea
34	chr7:8193200-8195200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr7:8193600-8196600	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr7:8193800-8196200	Enhancers	Brain Germinal Matrix	brain
37	chr7:8193800-8197800	Enhancers	Liver	Liver
38	chr7:8194000-8196800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:8194200-8198600	Weak transcription	Primary T cells from cord blood	blood
40	chr7:8194200-8200000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:8194400-8198000	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr7:8194600-8196000	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr7:8194800-8195200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr7:8194800-8198200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr7:8194800-8214600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr7:8195000-8196200	Strong transcription	Gastric	stomach
47	chr7:8195000-8196400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr7:8195000-8196600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr7:8195000-8197000	Strong transcription	Duodenum Mucosa	Duodenum
50	chr7:8195000-8198000	Strong transcription	Left Ventricle	heart

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