Variant report

Variant	rs72993315
Chromosome Location	chr11:108812247-108812248
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:108808750..108811658-chr11:108812114..108813943,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1469274	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17108759	1.00[ASN][1000 genomes]
rs17703817	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1820403	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2553769	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2615734	0.91[ASN][1000 genomes]
rs2726905	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2726924	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57196252	0.87[ASN][1000 genomes]
rs59287866	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7103209	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71489923	0.82[ASN][1000 genomes]
rs72993517	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72993528	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72993554	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7944806	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[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	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898389	chr11:108724639-108891986	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108787200-108815000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr11:108797400-108816200	Weak transcription	Fetal Intestine Small	intestine
3	chr11:108798200-108813000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr11:108798200-108814800	Weak transcription	Brain Anterior Caudate	brain
5	chr11:108798800-108814600	Weak transcription	Fetal Muscle Leg	muscle
6	chr11:108800800-108818000	Weak transcription	HMEC	breast
7	chr11:108802600-108812800	Weak transcription	Hela-S3	cervix
8	chr11:108805200-108813400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:108805200-108814600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:108805200-108829600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr11:108805800-108814800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr11:108807800-108814400	Weak transcription	Fetal Brain Male	brain
13	chr11:108808000-108815400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:108808000-108816200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:108808600-108815000	Strong transcription	Primary T cells from cord blood	blood
16	chr11:108808800-108814000	Weak transcription	Fetal Brain Female	brain
17	chr11:108808800-108819000	Weak transcription	HepG2	liver
18	chr11:108809200-108816200	Weak transcription	Spleen	Spleen
19	chr11:108809400-108813800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr11:108809400-108813800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:108809600-108814400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:108809600-108814600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr11:108809600-108816800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr11:108809600-108817600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr11:108809600-108819600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:108809800-108815000	Weak transcription	Brain Substantia Nigra	brain
27	chr11:108810000-108813000	Strong transcription	Primary B cells from cord blood	blood
28	chr11:108810000-108813000	Strong transcription	Stomach Smooth Muscle	stomach
29	chr11:108810000-108814200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr11:108810000-108814400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr11:108810000-108816600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr11:108810200-108813000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr11:108810200-108829000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr11:108810400-108812400	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr11:108810400-108813600	Weak transcription	Colon Smooth Muscle	Colon
36	chr11:108810600-108812400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:108810600-108812400	Strong transcription	Adipose Nuclei	Adipose
38	chr11:108810600-108812800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:108810600-108812800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr11:108810600-108812800	Strong transcription	Fetal Intestine Large	intestine
41	chr11:108810600-108813000	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr11:108810600-108813000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:108810600-108813000	Strong transcription	Liver	Liver
44	chr11:108810600-108813000	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr11:108810600-108813000	Strong transcription	Osteobl	bone
46	chr11:108810600-108813200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr11:108810600-108813200	Strong transcription	Left Ventricle	heart
48	chr11:108810600-108813400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:108810600-108814200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr11:108810800-108812600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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