Variant report

Variant	rs851021
Chromosome Location	chr6:36009383-36009384
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	chr6:36008403..36010150-chr6:36012606..36014695,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10484265	0.86[MEX][hapmap]
rs1100856	0.82[EUR][1000 genomes]
rs1100857	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1100859	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1100860	0.83[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17655247	0.86[MEX][hapmap]
rs2815806	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2815809	0.88[MEX][hapmap];0.94[TSI][hapmap]
rs6457879	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs707994	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73729674	1.00[ASN][1000 genomes]
rs851004	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851008	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851009	1.00[CEU][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851011	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851012	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851015	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851016	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851022	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851023	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs916344	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]
rs916345	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs916346	1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv528432	chr6:35958871-36035354	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs851021	MAPK14	cis	cerebellum	SCAN
rs851021	SRPK1	cis	cerebellum	SCAN

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35997600-36010800	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr6:35997600-36021800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr6:35998000-36019200	Weak transcription	HSMM	muscle
4	chr6:35998200-36018400	Weak transcription	NHLF	lung
5	chr6:35998200-36018600	Weak transcription	NHDF-Ad	bronchial
6	chr6:35999000-36027600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:36000600-36009800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:36000600-36020400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:36000600-36027400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:36003200-36027200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr6:36003800-36014600	Weak transcription	Gastric	stomach
12	chr6:36003800-36027600	Weak transcription	Colonic Mucosa	Colon
13	chr6:36005000-36009400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr6:36005000-36010200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:36005200-36009400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr6:36005400-36020400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:36006000-36009400	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr6:36006200-36010600	Weak transcription	Lung	lung
19	chr6:36006200-36013400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr6:36006200-36017800	Weak transcription	Hela-S3	cervix
21	chr6:36006200-36019200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:36006400-36010200	Weak transcription	Pancreas	Pancrea
23	chr6:36006400-36010200	Weak transcription	Spleen	Spleen
24	chr6:36006400-36019200	Weak transcription	Right Ventricle	heart
25	chr6:36006400-36039800	Weak transcription	Esophagus	oesophagus
26	chr6:36006600-36010400	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr6:36006600-36010400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr6:36006600-36010800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:36006600-36011400	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr6:36006600-36016200	Weak transcription	Thymus	Thymus
31	chr6:36006600-36016400	Weak transcription	Primary B cells from peripheral blood	blood
32	chr6:36006600-36016400	Weak transcription	Right Atrium	heart
33	chr6:36006600-36018200	Weak transcription	Fetal Thymus	thymus
34	chr6:36006600-36019200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:36006600-36020000	Weak transcription	Dnd41	blood
36	chr6:36006800-36010000	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr6:36006800-36010400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr6:36006800-36011800	Weak transcription	Osteobl	bone
39	chr6:36007000-36017000	Weak transcription	GM12878-XiMat	blood
40	chr6:36007200-36012200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr6:36007200-36014600	Weak transcription	K562	blood
42	chr6:36007200-36016800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr6:36007200-36017400	Weak transcription	Primary B cells from cord blood	blood
44	chr6:36007200-36018200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr6:36007200-36021600	Weak transcription	Brain Anterior Caudate	brain
46	chr6:36007400-36009800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:36007400-36010400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:36007400-36010400	Weak transcription	Fetal Intestine Small	intestine
49	chr6:36007400-36012200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:36007400-36012600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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