Variant report

Variant	rs8602
Chromosome Location	chr1:47023531-47023532
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:47023201..47026031-chr1:47173277..47176114,2	K562	blood:
2	chr1:47010945..47013606-chr1:47021921..47023743,2	K562	blood:
3	chr1:47020490..47024344-chr1:47028257..47029934,3	K562	blood:
4	chr1:47022335..47026629-chr1:47028438..47032620,4	K562	blood:
5	chr1:47015863..47022104-chr1:47022936..47029939,8	K562	blood:

Variant related genes	Relation type
ENSG00000162456	Chromatin interaction
ENSG00000079277	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1054743	0.84[CHD][hapmap]
rs10890403	0.84[ASN][1000 genomes]
rs10890404	1.00[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs10890405	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs11211306	0.87[EUR][1000 genomes]
rs11211312	0.87[EUR][1000 genomes]
rs11211328	0.90[CEU][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs11801320	0.92[ASN][1000 genomes]
rs12029680	0.90[CEU][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs12047046	0.94[CEU][hapmap];0.81[CHB][hapmap];0.84[EUR][1000 genomes]
rs12138971	0.84[EUR][1000 genomes]
rs1258043	0.90[ASN][1000 genomes]
rs1258044	0.89[ASN][1000 genomes]
rs1258049	0.92[ASN][1000 genomes]
rs1933934	0.90[CEU][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs3753359	0.84[EUR][1000 genomes]
rs3766231	0.90[CEU][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes]
rs3818323	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs55680528	0.87[EUR][1000 genomes]
rs59446321	0.85[EUR][1000 genomes]
rs61395024	0.84[ASN][1000 genomes]
rs6429606	0.85[CEU][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes]
rs7523809	0.83[ASN][1000 genomes]
rs7543083	0.81[CHB][hapmap]
rs7552833	0.80[EUR][1000 genomes]
rs7556307	0.87[EUR][1000 genomes]
rs7556481	0.90[CEU][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes]
rs885127	1.00[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs9659890	0.87[EUR][1000 genomes]
rs9804164	0.85[EUR][1000 genomes]
rs9804165	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761743	chr1:46339858-47026743	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1000562	chr1:46832451-47027044	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1015045	chr1:46910546-47067492	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv534952	chr1:46910546-47067492	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv1009193	chr1:46939999-47085667	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv998422	chr1:46969626-47023671	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv534953	chr1:46969626-47023671	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv1009899	chr1:47007765-47062737	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv534954	chr1:47007765-47062737	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
12	nsv1008246	chr1:47007844-47069845	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
13	nsv1011892	chr1:47010519-47067492	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs8602	MKNK1	cis	Whole Blood	GTEx
rs8602	MKNK1	Cis_1M	lymphoblastoid	RTeQTL
rs8602	MKNK1	cis	lung	GTEx
rs8602	CLDN19	cis	cerebellum	SCAN
rs8602	MKNK1	cis	cerebellum	SCAN
rs8602	MOB3C	cis	Whole Blood	GTEx
rs8602	C1orf84	cis	cerebellum	SCAN

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46999600-47035000	Weak transcription	Right Atrium	heart
2	chr1:47014000-47026600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr1:47015400-47024600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr1:47015600-47024000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr1:47015600-47024200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:47015600-47025800	Weak transcription	Colon Smooth Muscle	Colon
7	chr1:47015800-47023800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:47015800-47023800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr1:47015800-47024600	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr1:47015800-47026200	Weak transcription	Primary B cells from cord blood	blood
11	chr1:47015800-47041200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:47015800-47043400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:47016000-47025200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:47016000-47025600	Weak transcription	Fetal Brain Female	brain
15	chr1:47016000-47027000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr1:47016000-47037400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr1:47016200-47026000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr1:47016200-47030400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:47016400-47023600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:47016400-47025600	Weak transcription	Brain Anterior Caudate	brain
21	chr1:47016800-47034800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:47017600-47039800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr1:47017800-47024200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:47019000-47026200	Weak transcription	HepG2	liver
25	chr1:47019200-47023800	Weak transcription	Colonic Mucosa	Colon
26	chr1:47019200-47024200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr1:47019400-47024200	Weak transcription	Brain Hippocampus Middle	brain
28	chr1:47019600-47032800	Weak transcription	Small Intestine	intestine
29	chr1:47019800-47043600	Weak transcription	Dnd41	blood
30	chr1:47020400-47023600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:47020600-47023600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:47020600-47023600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:47020600-47025600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr1:47020600-47026200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr1:47020600-47031200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:47020800-47047400	Weak transcription	Brain Germinal Matrix	brain
37	chr1:47021000-47023600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr1:47021000-47023600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:47021000-47023800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr1:47021000-47024200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr1:47021000-47025000	Weak transcription	NHLF	lung
42	chr1:47021000-47057000	Weak transcription	Fetal Brain Male	brain
43	chr1:47021200-47024200	Weak transcription	Fetal Intestine Large	intestine
44	chr1:47021200-47026400	Weak transcription	Brain Substantia Nigra	brain
45	chr1:47021200-47045000	Weak transcription	K562	blood
46	chr1:47021400-47024000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:47021600-47024400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:47021600-47026400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:47021600-47032800	Weak transcription	GM12878-XiMat	blood
50	chr1:47021800-47023800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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