Variant report

Variant	rs17166397
Chromosome Location	chr5:98190612-98190613
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:98188742..98191146-chr5:98191246..98193409,2	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10044680	1.00[EUR][1000 genomes]
rs10045317	1.00[EUR][1000 genomes]
rs10046011	1.00[EUR][1000 genomes]
rs10060286	1.00[EUR][1000 genomes]
rs13358830	1.00[EUR][1000 genomes]
rs1382336	1.00[EUR][1000 genomes]
rs161743	1.00[EUR][1000 genomes]
rs162139	1.00[EUR][1000 genomes]
rs162141	1.00[EUR][1000 genomes]
rs162142	1.00[EUR][1000 genomes]
rs162143	1.00[EUR][1000 genomes]
rs162157	1.00[EUR][1000 genomes]
rs162160	1.00[EUR][1000 genomes]
rs162162	1.00[EUR][1000 genomes]
rs170579	1.00[EUR][1000 genomes]
rs17166210	1.00[EUR][1000 genomes]
rs17166218	1.00[EUR][1000 genomes]
rs17166224	1.00[EUR][1000 genomes]
rs17166450	1.00[EUR][1000 genomes]
rs17166454	1.00[EUR][1000 genomes]
rs17166527	1.00[AMR][1000 genomes]
rs17166529	1.00[AMR][1000 genomes]
rs17166530	1.00[AMR][1000 genomes]
rs17166548	1.00[AMR][1000 genomes]
rs17166551	1.00[AMR][1000 genomes]
rs17166576	1.00[AMR][1000 genomes]
rs17166582	1.00[AMR][1000 genomes]
rs179175	1.00[EUR][1000 genomes]
rs1828171	1.00[EUR][1000 genomes]
rs2611753	1.00[MKK][hapmap]
rs28782775	1.00[EUR][1000 genomes]
rs325198	1.00[EUR][1000 genomes]
rs325216	1.00[EUR][1000 genomes]
rs327801	1.00[EUR][1000 genomes]
rs327802	1.00[EUR][1000 genomes]
rs327805	1.00[EUR][1000 genomes]
rs451883	1.00[EUR][1000 genomes]
rs55842563	1.00[AMR][1000 genomes]
rs55918054	1.00[AMR][1000 genomes]
rs56037221	1.00[AMR][1000 genomes]
rs56301306	1.00[AMR][1000 genomes]
rs56367612	1.00[AMR][1000 genomes]
rs56380839	1.00[AMR][1000 genomes]
rs56393810	1.00[AMR][1000 genomes]
rs57883072	1.00[AMR][1000 genomes]
rs57969582	1.00[EUR][1000 genomes]
rs58634056	1.00[AMR][1000 genomes]
rs59156696	1.00[EUR][1000 genomes]
rs59602127	1.00[AMR][1000 genomes]
rs60347076	1.00[AMR][1000 genomes]
rs60955929	1.00[AMR][1000 genomes]
rs61578983	1.00[EUR][1000 genomes]
rs6863847	1.00[AMR][1000 genomes]
rs6870416	1.00[EUR][1000 genomes]
rs6890801	1.00[AMR][1000 genomes]
rs6890810	1.00[AMR][1000 genomes]
rs6891520	1.00[EUR][1000 genomes]
rs73151499	1.00[EUR][1000 genomes]
rs73153514	1.00[EUR][1000 genomes]
rs73153532	1.00[EUR][1000 genomes]
rs73155421	1.00[EUR][1000 genomes]
rs73155423	1.00[EUR][1000 genomes]
rs73155487	1.00[AMR][1000 genomes]
rs73155495	1.00[AMR][1000 genomes]
rs73155497	1.00[AMR][1000 genomes]
rs73155499	1.00[AMR][1000 genomes]
rs73157406	1.00[AMR][1000 genomes]
rs73157408	1.00[AMR][1000 genomes]
rs73157409	1.00[AMR][1000 genomes]
rs73157411	1.00[AMR][1000 genomes]
rs73157413	1.00[AMR][1000 genomes]
rs73157414	1.00[AMR][1000 genomes]
rs73157416	1.00[AMR][1000 genomes]
rs73157417	1.00[AMR][1000 genomes]
rs73157423	1.00[AMR][1000 genomes]
rs73157490	1.00[AMR][1000 genomes]
rs7705736	1.00[AMR][1000 genomes]
rs7711225	1.00[AMR][1000 genomes]
rs7717482	1.00[AMR][1000 genomes]
rs7717655	1.00[AMR][1000 genomes]
rs7724760	1.00[AMR][1000 genomes]
rs7726071	1.00[AMR][1000 genomes]
rs7727357	1.00[AMR][1000 genomes]
rs7727696	1.00[EUR][1000 genomes]
rs7727987	1.00[AMR][1000 genomes]
rs7728879	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882414	chr5:98063710-98193164	Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv882415	chr5:98134186-98312447	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv882416	chr5:98146106-98312447	Bivalent/Poised TSS Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17166397	BIK	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98180200-98213600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:98180800-98195200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr5:98182400-98203600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:98182600-98190800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:98182600-98191400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:98182600-98191600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr5:98182600-98197200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:98182600-98205000	Weak transcription	NHEK	skin
9	chr5:98183000-98201000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:98183200-98191400	Weak transcription	Fetal Lung	lung
11	chr5:98183200-98191400	Weak transcription	HepG2	liver
12	chr5:98185200-98203400	Weak transcription	Pancreas	Pancrea
13	chr5:98185600-98194800	Weak transcription	Fetal Kidney	kidney
14	chr5:98186200-98197200	Weak transcription	Fetal Intestine Small	intestine
15	chr5:98186200-98213400	Weak transcription	Esophagus	oesophagus
16	chr5:98186400-98191000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr5:98186400-98200800	Weak transcription	Psoas Muscle	Psoas
18	chr5:98186600-98197200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr5:98186800-98191000	Weak transcription	HSMM	muscle
20	chr5:98187000-98191800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr5:98188400-98247000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:98188600-98190800	Weak transcription	Adipose Nuclei	Adipose
23	chr5:98189000-98190800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr5:98189000-98190800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr5:98189000-98190800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr5:98189000-98190800	Weak transcription	Brain Germinal Matrix	brain
27	chr5:98189000-98190800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr5:98189000-98190800	Weak transcription	Fetal Intestine Large	intestine
29	chr5:98189000-98191000	Weak transcription	Osteobl	bone
30	chr5:98189000-98191200	Weak transcription	Hela-S3	cervix
31	chr5:98189200-98190800	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr5:98189200-98190800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr5:98189200-98191000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr5:98189200-98191000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr5:98189200-98191000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr5:98189200-98191000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr5:98189200-98196800	Weak transcription	Fetal Muscle Leg	muscle
38	chr5:98189200-98205000	Weak transcription	NHLF	lung
39	chr5:98189400-98191000	Weak transcription	K562	blood
40	chr5:98189400-98191600	Weak transcription	Colon Smooth Muscle	Colon
41	chr5:98189400-98191600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr5:98189400-98196200	Weak transcription	Primary T cells from cord blood	blood
43	chr5:98189400-98196800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr5:98189400-98197200	Weak transcription	Thymus	Thymus
45	chr5:98189400-98200000	Weak transcription	Left Ventricle	heart
46	chr5:98189400-98205800	Weak transcription	Fetal Heart	heart
47	chr5:98189400-98227400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr5:98189600-98191400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr5:98189600-98213800	Weak transcription	HSMMtube	muscle
50	chr5:98189600-98215400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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