Variant report

Variant	rs851023
Chromosome Location	chr6:36006220-36006221
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:35995194..35998195-chr6:36005882..36008273,3	MCF-7	breast:
2	chr6:36005811..36007501-chr6:36031896..36034665,2	MCF-7	breast:
3	chr6:35995831..35997886-chr6:36004325..36006384,2	MCF-7	breast:
4	chr6:36004256..36008488-chr6:36021572..36023371,4	K562	blood:
5	chr6:36005324..36007275-chr6:36062983..36064976,2	K562	blood:

Variant related genes	Relation type
ENSG00000112062	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 3 )

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	0.86[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];1.00[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]
rs851021	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]
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]
rs851025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs916344	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]
rs916345	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs916346	0.81[CEU][hapmap];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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs851023	MAPK14	cis	cerebellum	SCAN
rs851023	SLC26A8	cis	multi-tissue	Pritchard
rs851023	SRPK1	cis	cerebellum	SCAN

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35997600-36008800	Enhancers	Primary T helper naive cells from peripheral blood	blood
2	chr6:35997600-36010800	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr6:35997600-36021800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr6:35998000-36007400	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr6:35998000-36019200	Weak transcription	HSMM	muscle
6	chr6:35998200-36006600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:35998200-36018400	Weak transcription	NHLF	lung
8	chr6:35998200-36018600	Weak transcription	NHDF-Ad	bronchial
9	chr6:35998600-36007400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr6:35998800-36008800	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr6:35999000-36027600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:36000600-36009800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:36000600-36020400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:36000600-36027400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:36000800-36009200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr6:36002800-36006600	Enhancers	Primary T cells fromperipheralblood	blood
17	chr6:36003200-36027200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr6:36003400-36006400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr6:36003600-36006400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr6:36003600-36007000	Weak transcription	Brain Substantia Nigra	brain
21	chr6:36003800-36014600	Weak transcription	Gastric	stomach
22	chr6:36003800-36027600	Weak transcription	Colonic Mucosa	Colon
23	chr6:36004800-36006800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr6:36004800-36008600	Enhancers	Primary T cells from cord blood	blood
25	chr6:36005000-36006600	Enhancers	Primary B cells from peripheral blood	blood
26	chr6:36005000-36006600	Enhancers	Thymus	Thymus
27	chr6:36005000-36006800	Enhancers	Fetal Intestine Small	intestine
28	chr6:36005000-36008000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr6:36005000-36008800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr6:36005000-36008800	Enhancers	Colon Smooth Muscle	Colon
31	chr6:36005000-36009200	Enhancers	HepG2	liver
32	chr6:36005000-36009400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr6:36005000-36010200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:36005200-36006400	Enhancers	Right Ventricle	heart
35	chr6:36005200-36006400	Flanking Active TSS	GM12878-XiMat	blood
36	chr6:36005200-36006600	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr6:36005200-36006800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr6:36005200-36007400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr6:36005200-36008600	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr6:36005200-36008800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr6:36005200-36008800	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr6:36005200-36009400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr6:36005400-36006400	Enhancers	Aorta	Aorta
44	chr6:36005400-36006400	Enhancers	Esophagus	oesophagus
45	chr6:36005400-36006400	Enhancers	Psoas Muscle	Psoas
46	chr6:36005400-36006600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr6:36005400-36006600	Enhancers	HUVEC	blood vessel
48	chr6:36005400-36006800	Enhancers	Left Ventricle	heart
49	chr6:36005400-36007200	Enhancers	Primary B cells from cord blood	blood
50	chr6:36005400-36007200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links