Variant report

Variant	rs916344
Chromosome Location	chr6:36088939-36088940
allele	C/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

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	chr6:36088645..36090555-chr6:36286695..36290906,4	MCF-7	breast:
5	chr6:35994096..35997050-chr6:36088599..36091846,3	K562	blood:
6	chr6:36088560..36091491-chr6:36114764..36117251,2	MCF-7	breast:
7	chr6:36088742..36091663-chr6:36121395..36124734,4	MCF-7	breast:
8	chr6:36083349..36090492-chr6:36162486..36165995,10	K562	blood:
9	chr6:36088498..36092716-chr6:36163118..36166617,13	MCF-7	breast:
10	chr6:36088861..36090519-chr6:36216465..36219444,2	MCF-7	breast:
11	chr6:36087548..36090411-chr6:36326475..36328862,3	MCF-7	breast:

No data

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

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10484265	0.85[MEX][hapmap]
rs1100857	0.93[CEU][hapmap];0.88[YRI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1100859	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1100860	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12194501	1.00[CHD][hapmap]
rs17655247	0.85[MEX][hapmap]
rs17715303	0.82[YRI][hapmap]
rs2815806	0.93[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.89[TSI][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2815809	0.86[CEU][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap];0.82[EUR][1000 genomes]
rs6457879	0.93[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs707994	0.93[CEU][hapmap];0.90[GIH][hapmap];0.84[TSI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73729674	1.00[ASN][1000 genomes]
rs851004	0.93[CEU][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851008	0.93[CEU][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851009	0.90[CEU][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851011	0.93[CEU][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851012	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851015	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851016	0.93[CEU][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851021	0.92[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851022	0.93[CEU][hapmap];0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851023	0.93[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851025	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs916345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs916346	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]

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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs916344	MAPK14	cis	cerebellum	SCAN
rs916344	SRPK1	cis	cerebellum	SCAN

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36068000-36091400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:36077200-36094800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:36077200-36096600	Weak transcription	Fetal Brain Female	brain
4	chr6:36077400-36094800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr6:36077400-36096400	Weak transcription	Fetal Brain Male	brain
6	chr6:36077600-36089000	Weak transcription	A549	lung
7	chr6:36078400-36092000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr6:36078600-36091400	Weak transcription	Brain Anterior Caudate	brain
9	chr6:36079600-36089000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:36079600-36089000	Weak transcription	HMEC	breast
11	chr6:36079600-36091400	Weak transcription	Right Ventricle	heart
12	chr6:36079600-36092600	Weak transcription	Brain Germinal Matrix	brain
13	chr6:36079600-36094400	Weak transcription	Hela-S3	cervix
14	chr6:36081800-36091200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr6:36082000-36091400	Weak transcription	Brain Angular Gyrus	brain
16	chr6:36082000-36091400	Weak transcription	Brain Hippocampus Middle	brain
17	chr6:36082000-36091400	Weak transcription	Brain Substantia Nigra	brain
18	chr6:36082800-36091600	Weak transcription	Psoas Muscle	Psoas
19	chr6:36084600-36097600	Weak transcription	Fetal Heart	heart
20	chr6:36084800-36090400	Enhancers	Stomach Mucosa	stomach
21	chr6:36085400-36094600	Weak transcription	Colon Smooth Muscle	Colon
22	chr6:36085800-36092400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr6:36086400-36091400	Weak transcription	Dnd41	blood
24	chr6:36086600-36090200	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr6:36086600-36098000	Weak transcription	Aorta	Aorta
26	chr6:36087400-36089600	Enhancers	Lung	lung
27	chr6:36087800-36089200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr6:36087800-36089400	Enhancers	Spleen	Spleen
29	chr6:36087800-36089600	Enhancers	HUVEC	blood vessel
30	chr6:36087800-36090000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr6:36087800-36092400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr6:36088000-36089200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr6:36088000-36089400	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr6:36088000-36089400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr6:36088000-36090000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr6:36088200-36089000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr6:36088200-36089000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr6:36088200-36089200	Enhancers	Fetal Lung	lung
39	chr6:36088200-36089400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr6:36088200-36089400	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr6:36088200-36089400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
42	chr6:36088200-36089400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr6:36088200-36089400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr6:36088200-36089400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr6:36088200-36089600	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr6:36088200-36089600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr6:36088200-36090000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr6:36088200-36090000	Enhancers	Fetal Intestine Small	intestine
49	chr6:36088200-36093000	Enhancers	Placenta	Placenta
50	chr6:36088400-36089000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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