Variant report

Variant	rs3782093
Chromosome Location	chr11:65044986-65044987
allele	C/T
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65042439..65045431-chr11:65275213..65278438,3	K562	blood:
2	chr11:65028356..65033825-chr11:65042510..65045720,5	K562	blood:
3	chr11:65041089..65045233-chr11:65046251..65051065,9	K562	blood:
4	chr11:65044116..65045920-chr11:65190214..65192520,2	MCF-7	breast:
5	chr11:65040374..65045284-chr11:65188184..65192530,7	K562	blood:
6	chr11:65044749..65047601-chr11:65075341..65077443,2	K562	blood:
7	chr11:65043010..65045892-chr11:65047431..65049479,2	MCF-7	breast:
8	chr11:65043505..65045114-chr11:65054858..65057184,2	MCF-7	breast:
9	chr11:65044236..65045803-chr11:65087151..65090108,2	MCF-7	breast:
10	chr11:65028819..65033300-chr11:65042859..65047253,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000014138	Chromatin interaction
ENSG00000245532	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11605576	0.87[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs1196045	1.00[YRI][hapmap]
rs12420069	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap]
rs12420456	0.92[CEU][hapmap];0.87[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap]
rs17583	0.90[JPT][hapmap]
rs2073800	1.00[YRI][hapmap]
rs2271448	0.80[CEU][hapmap];0.85[JPT][hapmap]
rs2277307	0.90[JPT][hapmap]
rs3825072	0.82[ASW][hapmap];0.90[JPT][hapmap]
rs3953797	0.90[JPT][hapmap]
rs61895407	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61895419	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs681309	0.85[MKK][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv832190	chr11:64978144-65127613	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS 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	48 gene(s)	inside rSNPs	diseases
3	nsv976461	chr11:65000821-65054446	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	esv2422285	chr11:65013294-65254540	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs3782093	RBM14	cis	parietal	SCAN
rs3782093	NUDT8	cis	parietal	SCAN
rs3782093	PCNXL3	cis	parietal	SCAN
rs3782093	DAGLA	cis	parietal	SCAN
rs3782093	SLC22A20	cis	Skin Sun Exposed Lower leg	GTEx
rs3782093	SLC22A24	cis	cerebellum	SCAN
rs3782093	SCGB1A1	cis	parietal	SCAN
rs3782093	CLCF1	cis	parietal	SCAN
rs3782093	HRASLS2	cis	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65030200-65058800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:65030600-65045400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr11:65030600-65046200	Weak transcription	Gastric	stomach
4	chr11:65030600-65047800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr11:65030600-65048200	Weak transcription	Aorta	Aorta
6	chr11:65030600-65049400	Weak transcription	Right Ventricle	heart
7	chr11:65030600-65056800	Weak transcription	Right Atrium	heart
8	chr11:65030600-65058000	Weak transcription	Fetal Brain Male	brain
9	chr11:65030600-65058800	Weak transcription	Psoas Muscle	Psoas
10	chr11:65030800-65045200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr11:65031000-65046200	Weak transcription	Small Intestine	intestine
12	chr11:65031000-65046400	Weak transcription	Lung	lung
13	chr11:65031000-65049800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:65031200-65064800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:65031800-65058000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr11:65036800-65045200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr11:65038200-65047000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr11:65038400-65046200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr11:65038400-65046400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:65038600-65045000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr11:65038600-65046200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:65038600-65046200	Weak transcription	Brain Germinal Matrix	brain
23	chr11:65038600-65046200	Weak transcription	Esophagus	oesophagus
24	chr11:65038600-65048400	Weak transcription	Left Ventricle	heart
25	chr11:65038800-65045000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr11:65038800-65046200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr11:65038800-65046800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:65039000-65045000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr11:65039000-65046400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr11:65039400-65045200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr11:65039800-65045000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr11:65039800-65045200	Weak transcription	Primary B cells from cord blood	blood
33	chr11:65040000-65045000	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr11:65040000-65045200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr11:65040000-65047600	Weak transcription	Spleen	Spleen
36	chr11:65040000-65048200	Weak transcription	Ovary	ovary
37	chr11:65040000-65049000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr11:65042200-65046200	Enhancers	Fetal Intestine Large	intestine
39	chr11:65042400-65068800	Strong transcription	Fetal Thymus	thymus
40	chr11:65042800-65059000	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr11:65042800-65065000	Strong transcription	Primary T cells from cord blood	blood
42	chr11:65042800-65072800	Strong transcription	Dnd41	blood
43	chr11:65043000-65045200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr11:65043000-65045400	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr11:65043000-65046000	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr11:65043000-65047200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr11:65043000-65048000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:65043000-65048200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr11:65043000-65066200	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr11:65043000-65067600	Strong transcription	HUES6 Cell Line	embryonic stem cell

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