Variant report

Variant	rs3088328
Chromosome Location	chr11:65846921-65846922
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr11:65846794-65847084	A549	lung:	n/a	n/a
2	ZNF384	chr11:65846723-65846925	K562	blood:	n/a	n/a
3	FOXA1	chr11:65846801-65847013	T-47D	breast:	n/a	n/a
4	FOXA1	chr11:65846778-65846980	T-47D	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65844532..65851114-chr11:65890610..65896417,9	MCF-7	breast:
2	chr11:65845492..65848054-chr11:65910423..65911966,2	MCF-7	breast:
3	chr11:65846039..65848374-chr11:65888360..65890494,2	MCF-7	breast:
4	chr11:65837445..65841623-chr11:65846203..65851019,6	MCF-7	breast:
5	chr11:65846645..65848956-chr11:65849527..65852438,2	K562	blood:
6	chr11:65840513..65843599-chr11:65845942..65848991,3	K562	blood:

No data

Variant related genes	Relation type
PACS1	TF binding region
ENSG00000175115	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10750777	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10750778	0.95[EUR][1000 genomes]
rs10750780	0.82[EUR][1000 genomes]
rs10750781	0.82[EUR][1000 genomes]
rs10791849	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10791850	0.93[EUR][1000 genomes]
rs10791851	0.95[EUR][1000 genomes]
rs10791852	0.95[EUR][1000 genomes]
rs10791853	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10791854	0.94[EUR][1000 genomes]
rs10791855	0.94[EUR][1000 genomes]
rs10791856	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10791858	0.93[EUR][1000 genomes]
rs10791859	0.93[EUR][1000 genomes]
rs10791860	0.85[EUR][1000 genomes]
rs10791861	0.84[EUR][1000 genomes]
rs10791862	0.81[EUR][1000 genomes]
rs10791863	0.81[EUR][1000 genomes]
rs10896076	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10896077	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10896080	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10896081	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10896085	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10896087	0.97[EUR][1000 genomes]
rs10896089	0.95[EUR][1000 genomes]
rs10896090	0.93[EUR][1000 genomes]
rs10896091	0.95[EUR][1000 genomes]
rs10896092	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10896093	0.92[EUR][1000 genomes]
rs10896094	0.95[EUR][1000 genomes]
rs10896095	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10896097	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10896098	0.94[EUR][1000 genomes]
rs10896099	0.95[EUR][1000 genomes]
rs10896100	0.85[EUR][1000 genomes]
rs10896105	0.84[EUR][1000 genomes]
rs11227403	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11227409	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11227410	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11227411	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11227413	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11227414	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11227415	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11227420	0.95[EUR][1000 genomes]
rs11227426	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11227433	0.84[EUR][1000 genomes]
rs11227439	0.81[EUR][1000 genomes]
rs11607393	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12049852	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12226649	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12797158	0.95[EUR][1000 genomes]
rs12797586	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12800670	0.91[EUR][1000 genomes]
rs1717671	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1862005	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1987678	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2155198	0.82[EUR][1000 genomes]
rs2155201	0.82[EUR][1000 genomes]
rs2177053	0.95[EUR][1000 genomes]
rs2177054	0.93[EUR][1000 genomes]
rs2236651	0.84[EUR][1000 genomes]
rs2236652	0.84[EUR][1000 genomes]
rs2293121	0.94[EUR][1000 genomes]
rs2889313	0.93[EUR][1000 genomes]
rs3825067	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3862386	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3953856	0.93[EUR][1000 genomes]
rs4013917	0.97[EUR][1000 genomes]
rs4393319	0.84[EUR][1000 genomes]
rs4483592	0.83[EUR][1000 genomes]
rs4604890	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs471484	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs472518	0.93[ASN][1000 genomes]
rs475805	0.90[ASN][1000 genomes]
rs476551	0.84[EUR][1000 genomes]
rs485857	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs488320	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs524281	0.86[ASN][1000 genomes]
rs527897	0.87[ASN][1000 genomes]
rs535395	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs547087	0.93[ASN][1000 genomes]
rs549187	0.87[ASN][1000 genomes]
rs565198	0.86[ASN][1000 genomes]
rs571434	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs580891	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6591207	0.95[EUR][1000 genomes]
rs6591208	0.95[EUR][1000 genomes]
rs7115081	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7120326	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7124165	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7127808	0.82[EUR][1000 genomes]
rs7925123	0.83[EUR][1000 genomes]
rs7926402	0.97[EUR][1000 genomes]
rs7929909	0.95[EUR][1000 genomes]
rs7931477	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7931544	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7935336	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7937281	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7941431	0.95[EUR][1000 genomes]
rs7941469	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7942894	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7943911	0.95[EUR][1000 genomes]
rs7946447	0.87[EUR][1000 genomes]
rs7946917	0.95[EUR][1000 genomes]
rs7951079	0.84[EUR][1000 genomes]
rs918299	0.97[EUR][1000 genomes]
rs9645684	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9736673	0.97[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	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65839000-65849800	Weak transcription	Psoas Muscle	Psoas
2	chr11:65839200-65847600	Weak transcription	Brain Hippocampus Middle	brain
3	chr11:65839200-65847800	Weak transcription	Colonic Mucosa	Colon
4	chr11:65839400-65847200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr11:65839400-65847200	Weak transcription	Right Atrium	heart
6	chr11:65839400-65847600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr11:65839400-65847600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr11:65839400-65847600	Weak transcription	Small Intestine	intestine
9	chr11:65839400-65847800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:65839400-65848800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:65839400-65850400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:65839400-65850400	Weak transcription	Fetal Intestine Large	intestine
13	chr11:65839400-65850800	Weak transcription	Liver	Liver
14	chr11:65839400-65850800	Weak transcription	Fetal Kidney	kidney
15	chr11:65839400-65850800	Weak transcription	Right Ventricle	heart
16	chr11:65839600-65850400	Weak transcription	Brain Substantia Nigra	brain
17	chr11:65839600-65854600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:65840000-65847400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr11:65840000-65847600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:65840000-65847600	Weak transcription	Colon Smooth Muscle	Colon
21	chr11:65840200-65848000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr11:65840200-65848200	Strong transcription	Fetal Stomach	stomach
23	chr11:65840400-65847600	Weak transcription	HUVEC	blood vessel
24	chr11:65840600-65850800	Weak transcription	Brain Germinal Matrix	brain
25	chr11:65840600-65870600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr11:65840800-65847200	Weak transcription	Lung	lung
27	chr11:65840800-65850400	Weak transcription	Fetal Brain Male	brain
28	chr11:65840800-65850800	Weak transcription	Brain Angular Gyrus	brain
29	chr11:65841000-65847000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:65841000-65847200	Weak transcription	HepG2	liver
31	chr11:65841000-65847800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr11:65842000-65849600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr11:65842200-65847200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:65842200-65847200	Weak transcription	Brain Anterior Caudate	brain
35	chr11:65842200-65847200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr11:65842200-65847400	Weak transcription	NH-A	brain
37	chr11:65842200-65847600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr11:65842200-65847600	Weak transcription	Dnd41	blood
39	chr11:65842200-65848000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr11:65842200-65848800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr11:65842200-65850400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:65842200-65850600	Weak transcription	Fetal Lung	lung
43	chr11:65842200-65867800	Weak transcription	Ovary	ovary
44	chr11:65842400-65847200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr11:65842400-65847800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr11:65842400-65851800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr11:65842800-65847200	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr11:65842800-65847400	Weak transcription	Adipose Nuclei	Adipose
49	chr11:65843600-65851400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:65843800-65847600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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