Variant report

Variant	rs35688388
Chromosome Location	chr8:42916838-42916839
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:42914243..42917240-chr8:42995506..42997109,2	K562	blood:
2	chr8:42914214..42918635-chr8:42925467..42929517,5	K562	blood:
3	chr8:42915452..42917620-chr8:42917679..42921243,3	MCF-7	breast:
4	chr8:42909926..42914066-chr8:42914793..42919017,7	MCF-7	breast:
5	chr8:42915087..42916974-chr8:42931535..42934040,2	K562	blood:

Variant related genes	Relation type
ENSG00000168522	Chromatin interaction
ENSG00000200731	Chromatin interaction
ENSG00000165102	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1052654	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11986681	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11987893	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11990515	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11997799	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13251524	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13257298	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16891663	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34100417	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34864660	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35252795	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs57652067	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs57797146	0.84[AFR][1000 genomes]
rs58729413	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60292433	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62515942	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62515949	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62517585	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6996034	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7010367	0.88[AFR][1000 genomes]
rs7014595	0.82[AMR][1000 genomes]
rs7462864	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7821062	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7829867	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1024688	chr8:42709414-43333639	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv539563	chr8:42709414-43333639	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1033927	chr8:42748842-43575771	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
5	nsv533812	chr8:42755447-43528350	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
6	nsv1032781	chr8:42772394-43461484	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	nsv1021281	chr8:42807619-43472678	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
8	nsv429912	chr8:42852444-43701143	ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
9	nsv869499	chr8:42858608-43541986	Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
10	nsv916847	chr8:42858611-43541984	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
11	nsv1027779	chr8:42863024-43729296	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
12	nsv1025336	chr8:42905623-43333638	ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
13	nsv539564	chr8:42905623-43333638	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
14	nsv831302	chr8:42909483-43105520	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35688388	FNTA	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42912800-42917000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr8:42912800-42918000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr8:42912800-42918600	Weak transcription	Fetal Kidney	kidney
4	chr8:42912800-42920400	Weak transcription	Aorta	Aorta
5	chr8:42912800-42924200	Weak transcription	Gastric	stomach
6	chr8:42912800-42924600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:42912800-42936000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:42912800-42936600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:42912800-42943800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr8:42912800-42948000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:42913000-42917000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:42913000-42917800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:42913000-42917800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr8:42913000-42919000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr8:42913000-42920200	Weak transcription	HSMMtube	muscle
16	chr8:42913000-42920400	Weak transcription	Left Ventricle	heart
17	chr8:42913000-42920400	Weak transcription	Right Ventricle	heart
18	chr8:42913000-42924000	Weak transcription	Esophagus	oesophagus
19	chr8:42913000-42924000	Weak transcription	Pancreas	Pancrea
20	chr8:42913000-42924400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr8:42913000-42924400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr8:42913000-42924400	Weak transcription	Spleen	Spleen
23	chr8:42913000-42941200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr8:42913200-42917600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr8:42913200-42918600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr8:42913400-42917600	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr8:42913400-42917600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr8:42913400-42917800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr8:42913400-42917800	Weak transcription	Placenta	Placenta
30	chr8:42913400-42917800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr8:42913400-42918000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr8:42913400-42918000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr8:42913400-42920400	Weak transcription	Colonic Mucosa	Colon
34	chr8:42913600-42917000	Weak transcription	Fetal Stomach	stomach
35	chr8:42913600-42917200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr8:42913600-42917600	Weak transcription	Fetal Thymus	thymus
37	chr8:42913600-42917800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr8:42913600-42917800	Weak transcription	NHEK	skin
39	chr8:42913600-42918000	Weak transcription	Fetal Intestine Small	intestine
40	chr8:42913600-42919200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr8:42913600-42919600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr8:42913600-42920400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr8:42913600-42920600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:42913600-42921800	Weak transcription	Psoas Muscle	Psoas
45	chr8:42913600-42940600	Weak transcription	Small Intestine	intestine
46	chr8:42913800-42917000	Weak transcription	Fetal Muscle Leg	muscle
47	chr8:42913800-42917600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr8:42914000-42918000	Weak transcription	Thymus	Thymus
49	chr8:42914400-42917000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr8:42914400-42917200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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