Variant report

Variant	rs35617438
Chromosome Location	chr4:7784085-7784086
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	ZNF263	chr4:7783763-7784160	HEK293-T-REx	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:7782182..7784812-chr4:7794360..7796536,2	K562	blood:
2	chr4:7765704..7768382-chr4:7782855..7784797,2	K562	blood:
3	chr4:7783261..7784863-chr4:7786642..7789248,2	K562	blood:

Variant related genes	Relation type
AFAP1	TF binding region
ENSG00000196526	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11721583	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11721609	0.94[EUR][1000 genomes]
rs11724632	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11728778	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11729332	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11729602	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11730169	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11731942	0.92[EUR][1000 genomes]
rs11733311	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11734524	0.91[EUR][1000 genomes]
rs11734860	0.92[EUR][1000 genomes]
rs11737447	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13113113	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13117918	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13125295	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13128495	0.84[ASN][1000 genomes]
rs13132939	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17382379	0.89[EUR][1000 genomes]
rs17382393	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17466895	0.89[EUR][1000 genomes]
rs34250310	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34276892	0.83[EUR][1000 genomes]
rs34352176	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34949259	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35041036	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35161247	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs35509185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35515779	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35592594	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35672467	0.83[AFR][1000 genomes]
rs35870249	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35889107	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3934645	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs41264705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4443284	0.92[EUR][1000 genomes]
rs4594724	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55698135	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55740648	0.86[EUR][1000 genomes]
rs56270003	0.96[EUR][1000 genomes]
rs56352084	0.88[EUR][1000 genomes]
rs58457272	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61036795	0.94[EUR][1000 genomes]
rs62289276	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62289280	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62291980	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62291982	0.91[AMR][1000 genomes]
rs62291983	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62291984	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs885260	0.92[EUR][1000 genomes]
rs885261	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878570	chr4:7534603-7836835	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS 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	12 gene(s)	inside rSNPs	diseases
2	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1007319	chr4:7705550-7832097	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv537018	chr4:7705550-7832097	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7758400-7795400	Weak transcription	Hela-S3	cervix
2	chr4:7759400-7790400	Weak transcription	Psoas Muscle	Psoas
3	chr4:7761400-7784400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:7762000-7788000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:7762000-7805800	Weak transcription	Stomach Mucosa	stomach
6	chr4:7770800-7828400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr4:7776000-7784400	Strong transcription	Fetal Intestine Small	intestine
8	chr4:7776400-7787200	Weak transcription	Fetal Brain Male	brain
9	chr4:7776400-7790000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:7776400-7799000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr4:7776400-7800000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr4:7776400-7806800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr4:7776600-7785400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr4:7777000-7785800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:7777400-7784200	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr4:7778000-7784400	Strong transcription	Fetal Brain Female	brain
17	chr4:7780200-7794400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr4:7780400-7784200	Genic enhancers	Fetal Muscle Leg	muscle
19	chr4:7780600-7785800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:7780600-7788000	Genic enhancers	Osteobl	bone
21	chr4:7780600-7800200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr4:7780800-7784800	Genic enhancers	NH-A	brain
23	chr4:7780800-7790600	Weak transcription	Pancreas	Pancrea
24	chr4:7781000-7784400	Genic enhancers	Fetal Stomach	stomach
25	chr4:7781000-7800000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr4:7781200-7796000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr4:7781400-7784200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:7781400-7784800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:7781400-7786000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr4:7781400-7800400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr4:7781400-7801000	Weak transcription	Brain Substantia Nigra	brain
32	chr4:7781400-7801200	Weak transcription	Brain Anterior Caudate	brain
33	chr4:7781600-7784600	Weak transcription	A549	lung
34	chr4:7781600-7786000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr4:7781600-7786800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr4:7781600-7789400	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr4:7781600-7791400	Strong transcription	Fetal Intestine Large	intestine
38	chr4:7781600-7807400	Weak transcription	Brain Angular Gyrus	brain
39	chr4:7781800-7786800	Weak transcription	Fetal Kidney	kidney
40	chr4:7781800-7790000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:7782000-7786000	Enhancers	Fetal Heart	heart
42	chr4:7782000-7786600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:7782000-7790600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr4:7782200-7785400	Enhancers	Rectal Smooth Muscle	rectum
45	chr4:7782200-7791000	Strong transcription	Stomach Smooth Muscle	stomach
46	chr4:7782400-7784800	Enhancers	Colon Smooth Muscle	Colon
47	chr4:7782600-7790800	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr4:7782800-7784400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr4:7782800-7784800	Genic enhancers	Fetal Lung	lung
50	chr4:7782800-7785800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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