Variant report

Variant	rs11676475
Chromosome Location	chr2:32389190-32389191
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:32389013-32390138	K562	blood:	n/a	n/a
2	POLR2A	chr2:32389104-32392168	K562	blood:	n/a	n/a
3	POLR2A	chr2:32388937-32390346	K562	blood:	n/a	n/a
4	POLR2A	chr2:32389076-32390109	K562	blood:	n/a	n/a
5	POLR2A	chr2:32389143-32389353	K562	blood:	n/a	n/a
6	POLR2A	chr2:32389000-32389312	GM12892	blood:	n/a	n/a
7	POLR2A	chr2:32388933-32390046	HepG2	liver:	n/a	n/a
8	POLR2A	chr2:32389160-32389354	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr2:32389013-32389253	GM12878	blood:	n/a	n/a
10	HEY1	chr2:32388941-32391958	K562	blood:	n/a	chr2:32391190-32391205
11	POLR2A	chr2:32388564-32389727	K562	blood:	n/a	n/a
12	POLR2A	chr2:32389146-32389224	Gliobla	brain:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:32263820..32266854-chr2:32389080..32393861,5	MCF-7	breast:
2	chr2:32388440..32390986-chr2:32579691..32583834,6	K562	blood:
3	chr2:32387435..32390295-chr2:32587080..32590116,3	K562	blood:
4	chr2:32295719..32297694-chr2:32389118..32390763,2	K562	blood:
5	chr2:32241277..32243768-chr2:32387990..32389632,2	K562	blood:
6	chr2:32286352..32290626-chr2:32388602..32393371,12	K562	blood:
7	chr2:32107600..32109917-chr2:32388289..32390102,3	K562	blood:
8	chr2:32286363..32290764-chr2:32387862..32393371,13	K562	blood:
9	chr2:32388385..32389940-chr2:32579717..32581806,2	K562	blood:
10	chr2:32233185..32238105-chr2:32388775..32395245,11	K562	blood:
11	chr2:32233077..32237611-chr2:32388376..32395245,10	K562	blood:
12	chr2:32388347..32391315-chr6:27100140..27102328,2	MCF-7	breast:
13	chr2:32112402..32115115-chr2:32387877..32390821,4	K562	blood:
14	chr2:32264101..32266985-chr2:32387828..32391332,6	K562	blood:

No data

Variant related genes	Relation type
SLC30A6	TF binding region
ENSG00000162961	Chromatin interaction
ENSG00000021574	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000115760	Chromatin interaction
ENSG00000162959	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10172468	0.81[EUR][1000 genomes]
rs10208246	0.84[ASN][1000 genomes]
rs11124278	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12465124	0.81[AMR][1000 genomes]
rs12465351	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12474598	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12997026	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13427170	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs212686	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs212687	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs212694	0.80[EUR][1000 genomes]
rs212703	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs212713	0.81[EUR][1000 genomes]
rs212738	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs212739	0.84[ASN][1000 genomes]
rs212740	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs212741	0.86[EUR][1000 genomes]
rs212743	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs212744	0.87[EUR][1000 genomes]
rs212748	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs212749	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs212753	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs212755	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs212757	0.84[EUR][1000 genomes]
rs212762	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2280973	0.81[AMR][1000 genomes]
rs2366736	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3851308	0.81[AMR][1000 genomes]
rs4407291	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4519572	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4952209	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4952252	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55877106	0.81[EUR][1000 genomes]
rs56208031	0.84[AMR][1000 genomes]
rs62134021	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6716179	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6717209	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72863940	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7581432	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7588883	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv833670	chr2:32295778-32481857	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv873778	chr2:32297984-32409007	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32331600-32390200	Weak transcription	Gastric	stomach
2	chr2:32331600-32390200	Weak transcription	Pancreas	Pancrea
3	chr2:32332800-32389400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:32333000-32389800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:32342200-32389800	Weak transcription	Aorta	Aorta
6	chr2:32344200-32389600	Weak transcription	HMEC	breast
7	chr2:32354600-32390200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:32354800-32389600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr2:32355000-32389800	Weak transcription	Brain Substantia Nigra	brain
10	chr2:32355000-32390200	Weak transcription	Small Intestine	intestine
11	chr2:32355400-32389800	Weak transcription	HUVEC	blood vessel
12	chr2:32355600-32389600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:32355600-32389800	Weak transcription	Spleen	Spleen
14	chr2:32357400-32389800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:32360000-32390200	Weak transcription	Ovary	ovary
16	chr2:32361000-32389800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:32361200-32389600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr2:32361200-32389600	Weak transcription	NHEK	skin
19	chr2:32361200-32389600	Weak transcription	Osteobl	bone
20	chr2:32361400-32389600	Weak transcription	Fetal Heart	heart
21	chr2:32361400-32389600	Weak transcription	Hela-S3	cervix
22	chr2:32361600-32389600	Weak transcription	NH-A	brain
23	chr2:32363200-32389600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr2:32363400-32389800	Weak transcription	Fetal Kidney	kidney
25	chr2:32363600-32389800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr2:32365000-32389800	Weak transcription	Brain Anterior Caudate	brain
27	chr2:32367200-32389800	Weak transcription	Fetal Lung	lung
28	chr2:32367800-32389800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr2:32369800-32389200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:32370000-32389400	Weak transcription	GM12878-XiMat	blood
31	chr2:32370000-32389600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr2:32370000-32389800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr2:32370600-32389200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:32371000-32390200	Weak transcription	Left Ventricle	heart
35	chr2:32371000-32390200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr2:32371200-32389800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr2:32371400-32389400	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr2:32371400-32389600	Weak transcription	Brain Hippocampus Middle	brain
39	chr2:32371400-32389600	Weak transcription	Colon Smooth Muscle	Colon
40	chr2:32371800-32389400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr2:32371800-32389600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr2:32371800-32389600	Weak transcription	Thymus	Thymus
43	chr2:32371800-32389800	Weak transcription	Right Ventricle	heart
44	chr2:32372200-32389800	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr2:32372600-32389600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr2:32373000-32389600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr2:32373600-32389400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr2:32373800-32390000	Weak transcription	Fetal Muscle Leg	muscle
49	chr2:32374000-32389800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:32374600-32389200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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