Variant report

Variant	rs6694006
Chromosome Location	chr1:153604856-153604857
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:153603477..153606996-chr1:153962238..153964716,3	K562	blood:
2	chr1:153535304..153546939-chr1:153598248..153612195,40	MCF-7	breast:
3	chr1:153539127..153551919-chr1:153598146..153608314,34	MCF-7	breast:
4	chr1:149222274..149224948-chr1:153604341..153607220,2	MCF-7	breast:
5	chr1:153539289..153541606-chr1:153604560..153606747,2	K562	blood:
6	chr1:153603827..153606641-chr1:153939224..153941084,2	MCF-7	breast:
7	chr1:153537973..153540755-chr1:153602282..153604926,2	K562	blood:
8	chr1:153603477..153607903-chr1:153962238..153965498,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000196754	Chromatin interaction
ENSG00000143570	Chromatin interaction
ENSG00000143578	Chromatin interaction
ENSG00000206737	Chromatin interaction
ENSG00000177954	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10797056	0.85[AMR][1000 genomes]
rs10908746	0.82[AMR][1000 genomes]
rs11580122	0.84[AMR][1000 genomes]
rs12564925	0.82[AMR][1000 genomes]
rs1810836	0.81[AMR][1000 genomes]
rs1888115	0.81[AMR][1000 genomes]
rs2274739	0.82[AMR][1000 genomes]
rs2274740	0.82[AMR][1000 genomes]
rs28379831	0.82[AMR][1000 genomes]
rs28380060	0.85[AMR][1000 genomes]
rs28510471	0.85[AMR][1000 genomes]
rs28580554	0.85[AMR][1000 genomes]
rs28613361	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs28700217	0.81[AMR][1000 genomes]
rs3790412	0.82[AMR][1000 genomes]
rs3828031	0.82[AMR][1000 genomes]
rs4845557	0.85[AMR][1000 genomes]
rs7934	0.85[AMR][1000 genomes]
rs913860	0.82[AMR][1000 genomes]
rs913861	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
2	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs6694006	S100A16	cis	Artery Tibial	GTEx
rs6694006	RP1-178F15.4	cis	Artery Aorta	GTEx
rs6694006	RP1-178F15.4	cis	Muscle Skeletal	GTEx
rs6694006	RP1-178F15.4	cis	Adipose Subcutaneous	GTEx
rs6694006	RP1-178F15.4	cis	Heart Left Ventricle	GTEx
rs6694006	RP1-178F15.4	cis	lung	GTEx
rs6694006	RP1-178F15.5	cis	Adipose Subcutaneous	GTEx
rs6694006	CHTOP	cis	Muscle Skeletal	GTEx
rs6694006	S100A13	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153600000-153605600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:153600000-153605800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr1:153600000-153605800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:153600000-153605800	Weak transcription	Thymus	Thymus
5	chr1:153600000-153606600	Weak transcription	Aorta	Aorta
6	chr1:153600200-153605800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:153600200-153606000	Enhancers	Fetal Intestine Small	intestine
8	chr1:153600400-153605800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:153600400-153605800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:153600400-153605800	Weak transcription	HUVEC	blood vessel
11	chr1:153600400-153606000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:153600400-153606000	Weak transcription	Fetal Brain Male	brain
13	chr1:153600400-153606000	Enhancers	Fetal Intestine Large	intestine
14	chr1:153600400-153606400	Weak transcription	Small Intestine	intestine
15	chr1:153600600-153605600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:153600600-153605600	Weak transcription	NHDF-Ad	bronchial
17	chr1:153600600-153605800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr1:153600600-153605800	Weak transcription	GM12878-XiMat	blood
19	chr1:153600800-153605000	Weak transcription	Hela-S3	cervix
20	chr1:153600800-153605200	Weak transcription	Pancreas	Pancrea
21	chr1:153600800-153605600	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:153600800-153605600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr1:153600800-153605600	Weak transcription	NHEK	skin
24	chr1:153600800-153606400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:153601000-153605600	Weak transcription	HMEC	breast
26	chr1:153601200-153605800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr1:153601200-153606000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:153601400-153605800	Weak transcription	Primary B cells from cord blood	blood
29	chr1:153601400-153605800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:153601400-153606000	Weak transcription	Brain Angular Gyrus	brain
31	chr1:153601600-153605200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:153601600-153605800	Weak transcription	Primary B cells from peripheral blood	blood
33	chr1:153601600-153606000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:153601800-153605800	Weak transcription	Fetal Kidney	kidney
35	chr1:153602000-153606000	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr1:153602200-153606000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:153602200-153606400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:153602400-153605800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:153602600-153605600	Weak transcription	Esophagus	oesophagus
40	chr1:153602600-153605800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr1:153602600-153605800	Weak transcription	Fetal Thymus	thymus
42	chr1:153602600-153606000	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr1:153602800-153605800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr1:153602800-153606400	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr1:153603000-153605000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:153603000-153605600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr1:153603000-153605600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr1:153603000-153605600	Weak transcription	Gastric	stomach
49	chr1:153603000-153605600	Weak transcription	Stomach Smooth Muscle	stomach
50	chr1:153603000-153605800	Weak transcription	HSMM	muscle

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