Variant report

Variant	rs11228995
Chromosome Location	chr11:57083535-57083536
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SRF	chr11:57083516-57083741	K562	blood:	n/a	n/a
2	POLR2A	chr11:57083524-57083930	Hela-S3	cervix:	n/a	n/a
3	MAZ	chr11:57083163-57083731	K562	blood:	n/a	n/a
4	SIN3A	chr11:57083528-57083784	H1-hESC	embryonic stem cell:	n/a	n/a
5	NR2F2	chr11:57083473-57083788	K562	blood:	n/a	n/a
6	PAX5	chr11:57083498-57083723	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:57082825..57084947-chr11:57296049..57298062,2	K562	blood:
2	chr11:57060749..57062421-chr11:57082796..57084625,2	MCF-7	breast:
3	chr11:57075786..57078161-chr11:57083290..57085004,2	MCF-7	breast:
4	chr11:57074141..57076695-chr11:57081529..57084399,2	K562	blood:

No data

Variant related genes	Relation type
TNKS1BP1	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10792086	0.92[ASN][1000 genomes]
rs10792088	0.92[ASN][1000 genomes]
rs10792089	0.92[ASN][1000 genomes]
rs10792091	1.00[ASN][1000 genomes]
rs10896598	1.00[ASN][1000 genomes]
rs10896603	0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10896604	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896605	0.92[ASN][1000 genomes]
rs10896608	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11228991	0.81[EUR][1000 genomes]
rs11228997	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229003	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229011	1.00[ASN][1000 genomes]
rs11602265	0.92[ASN][1000 genomes]
rs11602266	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11603691	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11607950	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12361969	0.82[ASN][1000 genomes]
rs12365472	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12576878	0.92[ASN][1000 genomes]
rs1815769	1.00[ASN][1000 genomes]
rs2230649	0.92[ASN][1000 genomes]
rs34135716	0.92[ASN][1000 genomes]
rs4938863	0.92[ASN][1000 genomes]
rs4938864	1.00[ASN][1000 genomes]
rs61888886	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61888887	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61888888	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7106462	0.92[ASN][1000 genomes]
rs7111339	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7129491	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7951793	0.92[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	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv541048	chr11:57076815-57120781	Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57079200-57091400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr11:57079400-57089600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:57079400-57091400	Weak transcription	Primary B cells from cord blood	blood
4	chr11:57079600-57084200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr11:57079600-57084400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr11:57079600-57084600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:57079600-57084600	Weak transcription	Primary B cells from peripheral blood	blood
8	chr11:57079600-57084800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:57079600-57085200	Genic enhancers	Fetal Muscle Trunk	muscle
10	chr11:57079600-57086400	Genic enhancers	Gastric	stomach
11	chr11:57079600-57089400	Weak transcription	GM12878-XiMat	blood
12	chr11:57079600-57090800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr11:57079800-57083600	Genic enhancers	Adipose Nuclei	Adipose
14	chr11:57079800-57084200	Genic enhancers	H1 Cell Line	embryonic stem cell
15	chr11:57079800-57084600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr11:57079800-57084800	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr11:57079800-57085400	Strong transcription	Aorta	Aorta
18	chr11:57079800-57085400	Strong transcription	Fetal Brain Female	brain
19	chr11:57079800-57085600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
20	chr11:57079800-57086200	Genic enhancers	HUES6 Cell Line	embryonic stem cell
21	chr11:57079800-57087400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr11:57079800-57088200	Genic enhancers	Pancreas	Pancrea
23	chr11:57079800-57089000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr11:57079800-57089400	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr11:57079800-57090400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr11:57080000-57083800	Genic enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr11:57080000-57083800	Strong transcription	Brain Cingulate Gyrus	brain
28	chr11:57080000-57084200	Strong transcription	Rectal Smooth Muscle	rectum
29	chr11:57080000-57085400	Strong transcription	Brain Germinal Matrix	brain
30	chr11:57080000-57085400	Strong transcription	Brain Substantia Nigra	brain
31	chr11:57080000-57085600	Strong transcription	A549	lung
32	chr11:57080000-57085600	Strong transcription	Osteobl	bone
33	chr11:57080000-57088200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:57080200-57088800	Strong transcription	Dnd41	blood
35	chr11:57080400-57083600	Weak transcription	Hela-S3	cervix
36	chr11:57080400-57085400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:57080400-57085800	Strong transcription	NHDF-Ad	bronchial
38	chr11:57080400-57086400	Genic enhancers	Liver	Liver
39	chr11:57080600-57084400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:57080600-57085600	Strong transcription	Placenta Amnion	Placenta Amnion
41	chr11:57080600-57085800	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr11:57080800-57083600	Weak transcription	Psoas Muscle	Psoas
43	chr11:57080800-57084200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:57080800-57084200	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr11:57081000-57085800	Strong transcription	HMEC	breast
46	chr11:57081000-57085800	Strong transcription	NHEK	skin
47	chr11:57081200-57083600	Strong transcription	Stomach Smooth Muscle	stomach
48	chr11:57081200-57084200	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr11:57081200-57084400	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr11:57081400-57085800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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