Variant report

Variant	rs2303435
Chromosome Location	chr11:46332504-46332505
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:46332500-46332650	GM12875	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:46258591..46262908-chr11:46327982..46333180,8	K562	blood:
2	chr11:46257393..46260804-chr11:46327051..46334652,10	K562	blood:
3	chr11:46330662..46333267-chr11:46335331..46337838,2	MCF-7	breast:
4	chr11:46141780..46143612-chr11:46331038..46333172,2	MCF-7	breast:

Variant related genes	Relation type
CREB3L1	TF binding region
ENSG00000135365	Chromatin interaction
ENSG00000254639	Chromatin interaction
ENSG00000157613	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11038863	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12286778	0.82[GIH][hapmap]
rs4625425	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61882671	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61882672	0.93[ASN][1000 genomes]
rs61885566	0.93[ASN][1000 genomes]
rs6485676	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7102330	0.81[ASN][1000 genomes]
rs7924718	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9704813	0.94[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs9988792	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][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	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
2	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
3	esv1797501	chr11:46315437-46402521	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv1811345	chr11:46317062-46438072	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers 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	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2303435	KRR1	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46319200-46337600	Weak transcription	Right Ventricle	heart
2	chr11:46319200-46342000	Weak transcription	Ovary	ovary
3	chr11:46319400-46346000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:46321400-46340200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:46322000-46345000	Weak transcription	Small Intestine	intestine
6	chr11:46326400-46335400	Strong transcription	Gastric	stomach
7	chr11:46328200-46334800	Strong transcription	Rectal Mucosa Donor 31	rectum
8	chr11:46328600-46333400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:46328600-46334600	Strong transcription	Pancreas	Pancrea
10	chr11:46329000-46344000	Strong transcription	Fetal Intestine Large	intestine
11	chr11:46329200-46336200	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr11:46329200-46346800	Weak transcription	Fetal Kidney	kidney
13	chr11:46329400-46336200	Strong transcription	Sigmoid Colon	Sigmoid Colon
14	chr11:46330000-46341800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:46330200-46332800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr11:46330200-46349400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr11:46330600-46333400	Weak transcription	Spleen	Spleen
18	chr11:46330600-46334000	Strong transcription	Muscle Satellite Cultured Cells	--
19	chr11:46330600-46334200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr11:46330600-46335000	Strong transcription	Duodenum Mucosa	Duodenum
21	chr11:46330600-46335400	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr11:46330600-46338800	Weak transcription	Left Ventricle	heart
23	chr11:46330600-46339800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr11:46330600-46339800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr11:46330600-46344800	Strong transcription	Fetal Intestine Small	intestine
26	chr11:46330600-46345000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:46330600-46346200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr11:46330600-46348200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr11:46330600-46348800	Strong transcription	Fetal Stomach	stomach
30	chr11:46330800-46333400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr11:46330800-46334800	Strong transcription	Colonic Mucosa	Colon
32	chr11:46330800-46335600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr11:46330800-46338600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr11:46330800-46340600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr11:46330800-46344600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr11:46330800-46348200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr11:46331000-46333000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:46331000-46335000	Strong transcription	Fetal Muscle Leg	muscle
39	chr11:46331000-46335400	Strong transcription	HSMMtube	muscle
40	chr11:46331000-46336000	Strong transcription	HSMM	muscle
41	chr11:46331200-46339000	Weak transcription	Adipose Nuclei	Adipose
42	chr11:46331200-46344200	Strong transcription	Osteobl	bone
43	chr11:46331400-46335800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:46331400-46336600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr11:46331400-46336600	Strong transcription	Fetal Muscle Trunk	muscle
46	chr11:46331400-46336600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr11:46331400-46344800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:46331400-46345000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:46331600-46332800	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr11:46331600-46334400	Strong transcription	NH-A	brain

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