Variant report

Variant	rs3740664
Chromosome Location	chr11:86645009-86645010
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86644386..86648621-chr11:86649253..86652447,6	K562	blood:
2	chr11:86638262..86640027-chr11:86643062..86646036,2	MCF-7	breast:
3	chr11:86642755..86644260-chr11:86644350..86645938,2	K562	blood:
4	chr11:86644585..86647286-chr11:86649266..86651387,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM135-8	chr11:86643737-86648860	NONHSAT023498

Variant related genes	Relation type
ENSG00000150687	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10898563	1.00[YRI][hapmap]
rs11234888	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2756074	chr11:86456552-86729552	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1037042	chr11:86586876-86978492	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv541119	chr11:86586876-86978492	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3740664	TMEM126A	cis	cerebellum	SCAN
rs3740664	TYR	cis	cerebellum	SCAN

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86636200-86651200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:86640600-86647200	Enhancers	Fetal Lung	lung
3	chr11:86640600-86652200	Weak transcription	Small Intestine	intestine
4	chr11:86640800-86647200	Enhancers	Fetal Stomach	stomach
5	chr11:86641400-86647200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr11:86641800-86646000	Enhancers	NHDF-Ad	bronchial
7	chr11:86641800-86646400	Enhancers	NHLF	lung
8	chr11:86642000-86646600	Enhancers	NH-A	brain
9	chr11:86642000-86647400	Enhancers	Colon Smooth Muscle	Colon
10	chr11:86642000-86648600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:86642400-86646000	Enhancers	Osteobl	bone
12	chr11:86642600-86647000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:86642800-86645800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr11:86642800-86646000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr11:86642800-86646200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr11:86642800-86647200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:86643000-86645600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr11:86643000-86646000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr11:86643400-86646000	Enhancers	H9 Cell Line	embryonic stem cell
20	chr11:86643400-86646000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr11:86643400-86648000	Weak transcription	Fetal Heart	heart
22	chr11:86643600-86645400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr11:86643600-86646400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr11:86643600-86646400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:86643600-86647200	Enhancers	Stomach Smooth Muscle	stomach
26	chr11:86643600-86648800	Enhancers	HUVEC	blood vessel
27	chr11:86643600-86649000	Enhancers	K562	blood
28	chr11:86643600-86649200	Weak transcription	Lung	lung
29	chr11:86643600-86651000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr11:86643600-86651000	Weak transcription	HSMMtube	muscle
31	chr11:86643600-86651200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:86643600-86651200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr11:86643600-86663200	Weak transcription	Placenta	Placenta
34	chr11:86643800-86646000	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr11:86643800-86648200	Enhancers	Ovary	ovary
36	chr11:86643800-86651200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr11:86644000-86645200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr11:86644000-86645400	Weak transcription	Hela-S3	cervix
39	chr11:86644000-86645600	Enhancers	H1 Cell Line	embryonic stem cell
40	chr11:86644000-86649400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:86644000-86651000	Weak transcription	Right Ventricle	heart
42	chr11:86644000-86653200	Weak transcription	NHEK	skin
43	chr11:86644200-86645600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr11:86644200-86645600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr11:86644200-86646000	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr11:86644200-86647000	Enhancers	Fetal Kidney	kidney
47	chr11:86644200-86649200	Weak transcription	Left Ventricle	heart
48	chr11:86644200-86649600	Weak transcription	Aorta	Aorta
49	chr11:86644200-86650600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr11:86644200-86651200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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