Variant report

Variant	rs916346
Chromosome Location	chr6:36088255-36088256
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:35993784..35998553-chr6:36086872..36091412,11	MCF-7	breast:
2	chr6:36086449..36088959-chr6:36383375..36385135,2	K562	blood:
3	chr6:36083240..36096353-chr6:36161490..36168411,30	MCF-7	breast:
4	chr6:36083349..36090492-chr6:36162486..36165995,10	K562	blood:
5	chr6:36087548..36090411-chr6:36326475..36328862,3	MCF-7	breast:
6	chr6:36085224..36088803-chr6:36161164..36165491,4	K562	blood:

Variant related genes	Relation type
ENSG00000096070	Chromatin interaction
ENSG00000246982	Chromatin interaction
ENSG00000112062	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10484265	0.86[MEX][hapmap]
rs1100857	0.81[CEU][hapmap]
rs12194501	1.00[CHD][hapmap]
rs17655247	0.86[MEX][hapmap]
rs2815806	0.81[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.86[AMR][1000 genomes]
rs2815809	0.88[MEX][hapmap]
rs6457879	0.81[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap]
rs707994	0.81[CEU][hapmap];0.81[GIH][hapmap]
rs851004	0.81[CEU][hapmap];0.86[AMR][1000 genomes]
rs851008	0.81[CEU][hapmap]
rs851009	0.81[CEU][hapmap]
rs851011	0.81[CEU][hapmap]
rs851016	0.81[CEU][hapmap]
rs851021	1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap]
rs851022	0.81[CEU][hapmap]
rs851023	0.81[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap]
rs916344	0.87[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs916345	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]

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	esv3363467	chr6:35820920-36222197	Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs916346	TMEM217	cis	parietal	SCAN
rs916346	SRPK1	cis	cerebellum	SCAN
rs916346	MAPK14	cis	cerebellum	SCAN

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36022000-36088800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:36051600-36088800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:36068000-36091400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:36076600-36088600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:36077200-36088400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr6:36077200-36088400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:36077200-36088800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:36077200-36088800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr6:36077200-36088800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr6:36077200-36094800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:36077200-36096600	Weak transcription	Fetal Brain Female	brain
12	chr6:36077400-36094800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr6:36077400-36096400	Weak transcription	Fetal Brain Male	brain
14	chr6:36077600-36089000	Weak transcription	A549	lung
15	chr6:36078000-36088400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr6:36078400-36088400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr6:36078400-36088400	Weak transcription	NHLF	lung
18	chr6:36078400-36092000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr6:36078600-36088800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr6:36078600-36091400	Weak transcription	Brain Anterior Caudate	brain
21	chr6:36079000-36088600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr6:36079200-36088800	Weak transcription	NH-A	brain
23	chr6:36079600-36088400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:36079600-36088400	Weak transcription	NHEK	skin
25	chr6:36079600-36088600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr6:36079600-36088800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr6:36079600-36088800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr6:36079600-36089000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:36079600-36089000	Weak transcription	HMEC	breast
30	chr6:36079600-36091400	Weak transcription	Right Ventricle	heart
31	chr6:36079600-36092600	Weak transcription	Brain Germinal Matrix	brain
32	chr6:36079600-36094400	Weak transcription	Hela-S3	cervix
33	chr6:36079800-36088400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr6:36079800-36088800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr6:36080200-36088400	Weak transcription	Osteobl	bone
36	chr6:36080400-36088400	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr6:36080600-36088400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr6:36081000-36088400	Weak transcription	HSMM	muscle
39	chr6:36081200-36088400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr6:36081400-36088800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:36081600-36088600	Weak transcription	HepG2	liver
42	chr6:36081800-36091200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr6:36082000-36091400	Weak transcription	Brain Angular Gyrus	brain
44	chr6:36082000-36091400	Weak transcription	Brain Hippocampus Middle	brain
45	chr6:36082000-36091400	Weak transcription	Brain Substantia Nigra	brain
46	chr6:36082800-36091600	Weak transcription	Psoas Muscle	Psoas
47	chr6:36083000-36088400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr6:36083200-36088400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr6:36083400-36088600	Enhancers	Primary B cells from peripheral blood	blood
50	chr6:36083400-36088600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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