Variant report

Variant	rs11078378
Chromosome Location	chr17:17136693-17136694
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17135445..17137036-chr17:17206485..17208759,2	K562	blood:
2	chr17:17121039..17123215-chr17:17134749..17137620,2	K562	blood:
3	chr17:17135534..17137524-chr17:17138995..17141355,2	MCF-7	breast:
4	chr17:17134971..17137251-chr17:17137733..17141244,3	K562	blood:

Variant related genes	Relation type
ENSG00000154803	Chromatin interaction
ENSG00000266498	Chromatin interaction
ENSG00000205309	Chromatin interaction
ENSG00000264187	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12949822	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1708617	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1736208	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1736209	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1736211	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1736212	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1736218	0.87[ASN][1000 genomes]
rs2349865	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs8066090	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833380	chr17:17088416-17241206	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1065811	chr17:17104760-17225204	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv833382	chr17:17124329-17305683	Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv469777	chr17:17127385-17272698	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv482546	chr17:17127385-17272698	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11078378	FLCN	cis	Heart Left Ventricle	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17113800-17137600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr17:17115200-17139600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr17:17116200-17136800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr17:17126200-17138600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr17:17128600-17138800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr17:17129400-17138800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr17:17130000-17139000	Weak transcription	Fetal Kidney	kidney
8	chr17:17130600-17138600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr17:17132400-17138800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr17:17133400-17138600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr17:17133400-17138600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr17:17133600-17138600	Weak transcription	K562	blood
13	chr17:17133600-17138800	Weak transcription	Stomach Mucosa	stomach
14	chr17:17135000-17138800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr17:17135200-17138800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr17:17135400-17138600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr17:17135400-17138800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr17:17135400-17138800	Weak transcription	HUVEC	blood vessel
19	chr17:17135400-17139000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr17:17135400-17139400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr17:17135600-17138600	Weak transcription	Fetal Lung	lung
22	chr17:17135600-17138800	Weak transcription	Fetal Brain Male	brain
23	chr17:17135600-17139000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr17:17135800-17137400	Weak transcription	Fetal Heart	heart
25	chr17:17135800-17138600	Weak transcription	HSMM	muscle
26	chr17:17135800-17138800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr17:17135800-17138800	Weak transcription	Esophagus	oesophagus
28	chr17:17135800-17138800	Weak transcription	Right Ventricle	heart
29	chr17:17135800-17138800	Weak transcription	Thymus	Thymus
30	chr17:17136000-17138600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr17:17136000-17138600	Weak transcription	Fetal Brain Female	brain
32	chr17:17136000-17138800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr17:17136000-17138800	Weak transcription	Colonic Mucosa	Colon
34	chr17:17136000-17138800	Weak transcription	Psoas Muscle	Psoas
35	chr17:17136000-17138800	Weak transcription	Small Intestine	intestine
36	chr17:17136200-17137200	Weak transcription	Ovary	ovary
37	chr17:17136200-17137400	Weak transcription	Adipose Nuclei	Adipose
38	chr17:17136200-17137400	Weak transcription	Brain Substantia Nigra	brain
39	chr17:17136200-17137400	Weak transcription	Gastric	stomach
40	chr17:17136200-17137600	Weak transcription	Pancreas	Pancrea
41	chr17:17136200-17138000	Strong transcription	Fetal Intestine Small	intestine
42	chr17:17136200-17138400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr17:17136200-17138400	Weak transcription	Spleen	Spleen
44	chr17:17136200-17138600	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr17:17136200-17138600	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr17:17136200-17138600	Weak transcription	Primary B cells from cord blood	blood
47	chr17:17136200-17138600	Weak transcription	Primary B cells from peripheral blood	blood
48	chr17:17136200-17138600	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr17:17136200-17138600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr17:17136200-17138600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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