Variant report

Variant	rs17518601
Chromosome Location	chr1:169446004-169446005
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169445664..169448576-chr1:169507700..169509701,2	MCF-7	breast:
2	chr1:169439520..169441636-chr1:169445600..169448218,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11589952	0.86[CEU][hapmap];0.85[EUR][1000 genomes]
rs16862077	1.00[YRI][hapmap]
rs17518769	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs17577345	0.83[EUR][1000 genomes]
rs17577986	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs41272451	0.82[AMR][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	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer 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	56 gene(s)	inside rSNPs	diseases
2	nsv831871	chr1:169320673-169486680	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1001454	chr1:169387381-169465274	Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1005941	chr1:169410486-169456393	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17518601	KIFAP3	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169429600-169448200	Weak transcription	Fetal Heart	heart
2	chr1:169429800-169446400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:169430000-169446200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:169430000-169446200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr1:169430000-169446200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:169430000-169446400	Weak transcription	HUVEC	blood vessel
7	chr1:169430000-169450000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:169430000-169452000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr1:169430000-169452000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:169430000-169452600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:169430000-169452800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:169430000-169452800	Weak transcription	Brain Germinal Matrix	brain
13	chr1:169430000-169452800	Weak transcription	HMEC	breast
14	chr1:169430000-169452800	Weak transcription	NHDF-Ad	bronchial
15	chr1:169430000-169452800	Weak transcription	NHEK	skin
16	chr1:169430000-169453400	Weak transcription	Colonic Mucosa	Colon
17	chr1:169430000-169453800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:169430000-169454000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:169430000-169454400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:169430000-169454400	Weak transcription	Spleen	Spleen
21	chr1:169430200-169446200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr1:169430200-169446200	Weak transcription	Fetal Muscle Leg	muscle
23	chr1:169430200-169446200	Weak transcription	Lung	lung
24	chr1:169430200-169446200	Weak transcription	Pancreas	Pancrea
25	chr1:169430200-169446400	Weak transcription	Thymus	Thymus
26	chr1:169430200-169450600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:169430200-169451800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:169430200-169452600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr1:169430200-169452600	Weak transcription	NH-A	brain
30	chr1:169430200-169453200	Weak transcription	Esophagus	oesophagus
31	chr1:169430600-169446200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr1:169430600-169446200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:169430600-169452800	Weak transcription	Small Intestine	intestine
34	chr1:169430800-169446200	Weak transcription	Brain Hippocampus Middle	brain
35	chr1:169431200-169446800	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr1:169431200-169452000	Weak transcription	GM12878-XiMat	blood
37	chr1:169431400-169446200	Weak transcription	Fetal Brain Male	brain
38	chr1:169434600-169452600	Weak transcription	Primary B cells from cord blood	blood
39	chr1:169435200-169448400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:169435200-169452800	Weak transcription	Fetal Kidney	kidney
41	chr1:169435600-169446200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:169435600-169449200	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr1:169437400-169446200	Weak transcription	Brain Anterior Caudate	brain
44	chr1:169437400-169446200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr1:169437400-169446200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr1:169437400-169450600	Weak transcription	Brain Angular Gyrus	brain
47	chr1:169437400-169452600	Weak transcription	HSMMtube	muscle
48	chr1:169437400-169452600	Weak transcription	Osteobl	bone
49	chr1:169437400-169452800	Weak transcription	Aorta	Aorta
50	chr1:169437400-169452800	Weak transcription	Rectal Smooth Muscle	rectum

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