Variant report

Variant	rs7186296
Chromosome Location	chr16:69808998-69808999
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:69801326..69804144-chr16:69805460..69809751,5	K562	blood:
2	chr16:69795573..69798488-chr16:69807022..69810242,5	K562	blood:
3	chr16:69801430..69804144-chr16:69805898..69809751,3	K562	blood:
4	chr16:69807100..69810099-chr16:69813476..69816910,4	K562	blood:
5	chr16:69807438..69809153-chr16:69813983..69816471,2	K562	blood:
6	chr16:69794457..69798184-chr16:69807022..69810693,5	K562	blood:
7	chr16:69794502..69797651-chr16:69808679..69811582,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252670	Chromatin interaction
ENSG00000198373	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11640319	0.89[JPT][hapmap]
rs12448486	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12448499	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12596945	0.81[EUR][1000 genomes]
rs12921782	0.80[ASN][1000 genomes]
rs12924052	0.91[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs12926035	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1469908	0.84[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap]
rs2917670	0.84[JPT][hapmap]
rs2917678	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2965749	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3811348	0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3848278	0.89[JPT][hapmap]
rs4633710	0.81[JPT][hapmap]
rs4985522	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6499251	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7187634	0.89[JPT][hapmap]
rs7189878	0.89[JPT][hapmap]
rs7191292	0.89[JPT][hapmap]
rs7192380	0.84[JPT][hapmap]
rs8049728	0.89[JPT][hapmap]
rs8055756	0.89[JPT][hapmap]
rs8061052	0.89[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906823	chr16:69711533-69959223	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs7186296	IL34	cis	cerebellum	SCAN
rs7186296	HPR	cis	cerebellum	SCAN
rs7186296	CDH16	cis	cerebellum	SCAN
rs7186296	LOC440348	cis	multi-tissue	Pritchard
rs7186296	LOC440348	Cis_chr	lymphoblastoid	RTeQTL
rs7186296	NQO1	cis	multi-tissue	Pritchard
rs7186296	LOC283970	cis	multi-tissue	Pritchard

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69797200-69809800	Weak transcription	Small Intestine	intestine
2	chr16:69797400-69821200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr16:69797600-69816800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr16:69797600-69853400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr16:69797800-69809200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr16:69797800-69809200	Weak transcription	A549	lung
7	chr16:69797800-69809800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr16:69797800-69821200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr16:69798000-69809200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr16:69798000-69809400	Weak transcription	Dnd41	blood
11	chr16:69798000-69810000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr16:69800600-69817200	Weak transcription	Fetal Stomach	stomach
13	chr16:69800600-69817600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr16:69802200-69809200	Weak transcription	Fetal Intestine Large	intestine
15	chr16:69802800-69821400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr16:69803000-69823400	Weak transcription	Right Ventricle	heart
17	chr16:69803400-69830200	Weak transcription	Fetal Heart	heart
18	chr16:69804800-69814400	Weak transcription	Lung	lung
19	chr16:69806600-69812200	Weak transcription	Fetal Thymus	thymus
20	chr16:69806800-69809800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr16:69806800-69809800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr16:69806800-69809800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr16:69806800-69817600	Weak transcription	Gastric	stomach
24	chr16:69806800-69821000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr16:69806800-69821200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr16:69806800-69830200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr16:69806800-69833000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr16:69807000-69809000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr16:69807000-69809000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr16:69807000-69809200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr16:69807000-69809200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr16:69807000-69809200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr16:69807000-69809400	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr16:69807000-69809400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr16:69807000-69809600	Weak transcription	Colon Smooth Muscle	Colon
36	chr16:69807000-69810000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr16:69807000-69820800	Weak transcription	Spleen	Spleen
38	chr16:69807000-69821000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr16:69807000-69821400	Weak transcription	Colonic Mucosa	Colon
40	chr16:69807000-69821600	Weak transcription	Stomach Mucosa	stomach
41	chr16:69807000-69821800	Weak transcription	Brain Substantia Nigra	brain
42	chr16:69807000-69822200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr16:69807000-69822400	Weak transcription	Fetal Kidney	kidney
44	chr16:69807000-69830200	Weak transcription	NHDF-Ad	bronchial
45	chr16:69807000-69832000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr16:69807200-69809200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr16:69807200-69809200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr16:69807200-69809400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr16:69807200-69809400	Weak transcription	HepG2	liver
50	chr16:69807200-69809800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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