Variant report

Variant	rs11038851
Chromosome Location	chr11:46304368-46304369
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46299347..46301485-chr11:46304045..46305956,2	MCF-7	breast:
2	chr11:46302896..46305879-chr11:46311547..46314983,4	MCF-7	breast:
3	chr11:46300020..46301678-chr11:46304027..46305716,2	K562	blood:
4	chr11:46301943..46305036-chr11:46305581..46308212,3	K562	blood:
5	chr11:46293083..46308698-chr11:46310742..46320666,35	K562	blood:

Variant related genes	Relation type
ENSG00000157613	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10838595	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11038843	0.88[ASN][1000 genomes]
rs12273276	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12286778	0.93[ASW][hapmap];1.00[CEU][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61884156	0.88[ASN][1000 genomes]
rs61884157	0.88[ASN][1000 genomes]
rs61884158	0.81[ASN][1000 genomes]
rs61885561	0.92[ASN][1000 genomes]
rs7104451	0.88[CHD][hapmap];1.00[JPT][hapmap]
rs7105423	1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7106583	0.88[ASN][1000 genomes]
rs7124003	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7127254	0.84[CEU][hapmap]
rs72910039	0.84[ASN][1000 genomes]
rs7924718	0.80[ASW][hapmap];0.82[GIH][hapmap]
rs7926726	0.88[CHD][hapmap];1.00[JPT][hapmap]
rs7929630	0.91[EUR][1000 genomes]

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	nsv1051344	chr11:46188818-46306447	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv541028	chr11:46188818-46306447	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
3	nsv554201	chr11:46281835-46422686	Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv825867	chr11:46303184-46425613	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11038851	FNBP4	cis	cerebellum	SCAN
rs11038851	KRR1	trans	cerebellum	SCAN
rs11038851	API5	cis	cerebellum	SCAN

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46301400-46311400	Weak transcription	Colon Smooth Muscle	Colon
2	chr11:46301600-46306800	Weak transcription	Lung	lung
3	chr11:46301600-46307200	Weak transcription	Right Atrium	heart
4	chr11:46302800-46306600	Weak transcription	HSMMtube	muscle
5	chr11:46303000-46311800	Weak transcription	Hela-S3	cervix
6	chr11:46303200-46304600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:46303200-46306400	Weak transcription	Left Ventricle	heart
8	chr11:46303400-46305400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:46303400-46305400	Weak transcription	HSMM	muscle
10	chr11:46303400-46306600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:46303400-46307000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:46303400-46307400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr11:46303400-46310000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr11:46303600-46304400	Genic enhancers	Osteobl	bone
15	chr11:46303600-46306000	Weak transcription	Fetal Intestine Large	intestine
16	chr11:46303600-46306400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr11:46303600-46306400	Weak transcription	Right Ventricle	heart
18	chr11:46303600-46306600	Weak transcription	Fetal Lung	lung
19	chr11:46303600-46307000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:46303600-46307000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr11:46303600-46311000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:46303600-46311400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr11:46303600-46311600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr11:46303600-46311600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr11:46303600-46311800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr11:46303800-46304400	Genic enhancers	Fetal Intestine Small	intestine
27	chr11:46303800-46304400	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr11:46303800-46305600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:46303800-46306400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:46303800-46306600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr11:46303800-46306600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:46303800-46306600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr11:46303800-46306600	Weak transcription	Small Intestine	intestine
34	chr11:46303800-46307000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr11:46303800-46307400	Weak transcription	Fetal Kidney	kidney
36	chr11:46303800-46311600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:46303800-46311800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr11:46304000-46304400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr11:46304000-46305400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:46304000-46305400	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr11:46304000-46305600	Strong transcription	NH-A	brain
42	chr11:46304000-46306400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr11:46304000-46306600	Weak transcription	Fetal Muscle Trunk	muscle
44	chr11:46304000-46306600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr11:46304000-46306800	Weak transcription	Ovary	ovary
46	chr11:46304000-46311200	Weak transcription	Fetal Thymus	thymus
47	chr11:46304200-46304400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:46304200-46304400	Enhancers	Stomach Mucosa	stomach
49	chr11:46304200-46305000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr11:46304200-46305400	Weak transcription	Pancreas	Pancrea

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