Variant report

Variant	rs12949525
Chromosome Location	chr17:17993686-17993687
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17984151..17987033-chr17:17992447..17995446,2	K562	blood:
2	chr17:17993597..17995633-chr17:18001324..18003310,2	K562	blood:
3	chr17:17989884..17994353-chr17:18008301..18011863,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108591	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12943914	0.81[AMR][1000 genomes]
rs2230316	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4925138	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs712265	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs854762	0.80[AMR][1000 genomes]
rs854766	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
4	nsv960429	chr17:17951047-18027679	Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats 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	14 gene(s)	inside rSNPs	diseases
5	nsv482491	chr17:17959577-18153920	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv1061162	chr17:17978838-18259234	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv492305	chr17:17980441-18424702	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17991800-17997000	Weak transcription	Aorta	Aorta
2	chr17:17991800-18009800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr17:17992000-18000600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr17:17992200-17994200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr17:17992200-17997000	Weak transcription	Fetal Heart	heart
6	chr17:17992200-18000800	Weak transcription	Psoas Muscle	Psoas
7	chr17:17992200-18002400	Weak transcription	Fetal Brain Male	brain
8	chr17:17992200-18014000	Weak transcription	Right Atrium	heart
9	chr17:17992400-17993800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr17:17992400-17994000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr17:17992400-17994200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr17:17992400-17994200	Weak transcription	Primary T cells from cord blood	blood
13	chr17:17992400-17994200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr17:17992400-17994200	Weak transcription	Fetal Intestine Small	intestine
15	chr17:17992400-17994200	Weak transcription	Fetal Muscle Leg	muscle
16	chr17:17992400-17994400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr17:17992400-17994400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr17:17992400-17994400	Weak transcription	Fetal Thymus	thymus
19	chr17:17992400-17994400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr17:17992400-17994600	Weak transcription	Thymus	Thymus
21	chr17:17992400-17994800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr17:17992400-17994800	Weak transcription	Liver	Liver
23	chr17:17992400-17995000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr17:17992400-17995000	Weak transcription	Brain Anterior Caudate	brain
25	chr17:17992400-17995200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr17:17992400-17995200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr17:17992400-17995200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr17:17992400-17995200	Weak transcription	Fetal Intestine Large	intestine
29	chr17:17992400-17995200	Weak transcription	Ovary	ovary
30	chr17:17992400-17995200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr17:17992400-17995200	Weak transcription	HSMM	muscle
32	chr17:17992400-17995200	Weak transcription	NHEK	skin
33	chr17:17992400-17995400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr17:17992400-17995400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr17:17992400-17995400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr17:17992400-17995400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr17:17992400-17995400	Weak transcription	Primary B cells from cord blood	blood
38	chr17:17992400-17995400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr17:17992400-17995400	Weak transcription	Esophagus	oesophagus
40	chr17:17992400-17995600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr17:17992400-17996000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr17:17992400-17996200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr17:17992400-17996200	Weak transcription	HSMMtube	muscle
44	chr17:17992400-17996200	Weak transcription	Osteobl	bone
45	chr17:17992400-17996400	Weak transcription	Brain Germinal Matrix	brain
46	chr17:17992400-17996800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr17:17992400-17996800	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr17:17992400-17997000	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr17:17992400-17997000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr17:17992400-17997000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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