Variant report

Variant	rs11604636
Chromosome Location	chr11:6407190-6407191
allele	A/C
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	chr11:6407162-6407246	Kidney_OC	kidney:	n/a	n/a
2	POLR2A	chr11:6405997-6407274	SK-N-MC	brain:	n/a	n/a

Variant related genes	Relation type
SMPD1	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11040879	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11040880	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11040883	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11603081	1.00[ASN][1000 genomes]
rs12417813	1.00[ASN][1000 genomes]
rs34995289	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4758097	1.00[ASN][1000 genomes]
rs4758415	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72896245	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72896248	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72896249	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72896251	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72896252	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72896262	1.00[ASN][1000 genomes]
rs7931364	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7932237	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7934983	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7935228	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7935950	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7937560	1.00[ASN][1000 genomes]
rs7940008	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7950901	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv530216	chr11:5614439-6468232	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv534152	chr11:6282812-6659230	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv1046995	chr11:6339868-6658766	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv553371	chr11:6395690-6434465	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:6400200-6409600	Weak transcription	Colonic Mucosa	Colon
2	chr11:6400400-6408600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr11:6400600-6408200	Weak transcription	Stomach Mucosa	stomach
4	chr11:6400600-6408800	Weak transcription	HUVEC	blood vessel
5	chr11:6400800-6410800	Weak transcription	Primary B cells from cord blood	blood
6	chr11:6402800-6410400	Weak transcription	Brain Substantia Nigra	brain
7	chr11:6404200-6408600	Weak transcription	Hela-S3	cervix
8	chr11:6405200-6407400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:6405400-6411000	Weak transcription	Gastric	stomach
10	chr11:6405600-6410200	Weak transcription	Fetal Heart	heart
11	chr11:6405600-6410600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr11:6406000-6407200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr11:6406000-6407200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr11:6406000-6407400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr11:6406000-6407400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr11:6406000-6407400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr11:6406200-6407200	Enhancers	H1 Cell Line	embryonic stem cell
18	chr11:6406200-6407200	Enhancers	H9 Cell Line	embryonic stem cell
19	chr11:6406400-6407200	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr11:6406400-6407200	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr11:6406400-6407400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr11:6406400-6410000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr11:6406600-6410600	Weak transcription	Thymus	Thymus
24	chr11:6407000-6407200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:6407000-6408600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:6407000-6409600	Weak transcription	Primary T cells from cord blood	blood
27	chr11:6407000-6409800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr11:6407000-6410400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr11:6407000-6410400	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr11:6407000-6410400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr11:6407000-6410400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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