Variant report

Variant	rs4418777
Chromosome Location	chr11:36306538-36306539
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:36301790..36306612-chr11:36307311..36312383,9	K562	blood:

Variant related genes	Relation type
ENSG00000110442	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10836528	0.86[YRI][hapmap]
rs10836531	0.80[MKK][hapmap]
rs11033524	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11033527	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11602024	0.92[AFR][1000 genomes]
rs11603166	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12361221	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1562327	0.81[CEU][hapmap];0.81[JPT][hapmap];0.84[TSI][hapmap];0.80[EUR][1000 genomes]
rs17814690	0.86[YRI][hapmap]
rs1900336	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2289986	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2289987	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56386213	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs61878683	0.94[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs61878687	0.87[EUR][1000 genomes]
rs6484831	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.87[YRI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7104737	0.90[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs7107433	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7109505	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72946165	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7951298	1.00[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9667667	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9787880	0.89[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9787894	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9888212	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9888261	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]

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	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4418777	SLC1A2	cis	parietal	SCAN
rs4418777	LINC00610	cis	Thyroid	GTEx

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36288000-36310200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr11:36290800-36310400	Weak transcription	Stomach Mucosa	stomach
3	chr11:36292000-36309600	Weak transcription	Psoas Muscle	Psoas
4	chr11:36292200-36309600	Weak transcription	A549	lung
5	chr11:36295000-36310000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr11:36296400-36309800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr11:36296600-36309600	Weak transcription	Fetal Lung	lung
8	chr11:36296600-36309600	Weak transcription	NHLF	lung
9	chr11:36298200-36310000	Weak transcription	NHDF-Ad	bronchial
10	chr11:36298400-36309400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr11:36300600-36309600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr11:36300600-36309600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:36300600-36309600	Weak transcription	Right Ventricle	heart
14	chr11:36300800-36309200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr11:36300800-36309600	Weak transcription	Pancreas	Pancrea
16	chr11:36300800-36309600	Weak transcription	Spleen	Spleen
17	chr11:36300800-36310000	Weak transcription	Colonic Mucosa	Colon
18	chr11:36300800-36310000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr11:36300800-36310000	Weak transcription	Gastric	stomach
20	chr11:36301000-36307400	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr11:36301000-36309200	Weak transcription	Dnd41	blood
22	chr11:36301000-36309400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr11:36301000-36309600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr11:36301000-36309800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:36301000-36309800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr11:36301200-36309400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr11:36301200-36309400	Weak transcription	HepG2	liver
28	chr11:36301200-36309600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr11:36301200-36309800	Weak transcription	Colon Smooth Muscle	Colon
30	chr11:36301200-36310200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:36301400-36309200	Weak transcription	Brain Angular Gyrus	brain
32	chr11:36301400-36309400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr11:36301400-36309600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr11:36301600-36310000	Weak transcription	Placenta	Placenta
35	chr11:36301800-36309200	Weak transcription	Fetal Brain Female	brain
36	chr11:36301800-36309600	Weak transcription	Left Ventricle	heart
37	chr11:36301800-36310000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr11:36302000-36309200	Weak transcription	Liver	Liver
39	chr11:36302000-36310000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr11:36302000-36310000	Weak transcription	Thymus	Thymus
41	chr11:36302200-36309400	Weak transcription	HUVEC	blood vessel
42	chr11:36302200-36309600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:36302200-36309600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr11:36302200-36310000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr11:36302400-36309400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr11:36302400-36309400	Weak transcription	Adipose Nuclei	Adipose
47	chr11:36302400-36309600	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr11:36302400-36309600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr11:36302400-36309600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr11:36302400-36310000	Weak transcription	Fetal Muscle Leg	muscle

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