Variant report

Variant	rs7944806
Chromosome Location	chr11:108715904-108715905
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:108695140..108698034-chr11:108715327..108717673,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1469274	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17108759	0.91[ASN][1000 genomes]
rs17703817	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1820403	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2553769	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2615734	1.00[ASN][1000 genomes]
rs2726905	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2726924	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59287866	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7103209	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7114472	0.83[AFR][1000 genomes]
rs7129535	0.96[AFR][1000 genomes]
rs71489923	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs72993315	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72993517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72993528	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72993554	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7946592	0.83[AFR][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	nsv898388	chr11:108440814-108724639	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108680600-108724400	Weak transcription	Aorta	Aorta
2	chr11:108687000-108717000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr11:108701000-108724400	Weak transcription	NHEK	skin
4	chr11:108704400-108723000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:108706600-108724400	Weak transcription	Small Intestine	intestine
6	chr11:108706800-108724600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr11:108707200-108724400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr11:108707400-108723200	Weak transcription	Psoas Muscle	Psoas
9	chr11:108707600-108740800	Weak transcription	HMEC	breast
10	chr11:108707800-108723200	Weak transcription	Osteobl	bone
11	chr11:108707800-108723400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr11:108707800-108723800	Weak transcription	Fetal Muscle Leg	muscle
13	chr11:108708000-108724000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:108708000-108724400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr11:108708000-108724400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr11:108708000-108724600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr11:108708200-108717000	Weak transcription	NHDF-Ad	bronchial
18	chr11:108708200-108723600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr11:108708200-108723600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr11:108708200-108723800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr11:108708200-108724400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr11:108708200-108724400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:108708200-108724600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr11:108708200-108729200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr11:108708400-108717600	Weak transcription	Placenta	Placenta
26	chr11:108708400-108724200	Weak transcription	NH-A	brain
27	chr11:108708400-108724400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:108708600-108723200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr11:108708600-108724800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr11:108709200-108716200	Weak transcription	Right Ventricle	heart
31	chr11:108709600-108723600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr11:108709600-108723800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr11:108709800-108716800	Weak transcription	HSMMtube	muscle
34	chr11:108709800-108724800	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr11:108709800-108724800	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr11:108710000-108717600	Weak transcription	Fetal Lung	lung
37	chr11:108710000-108723200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:108710000-108724200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr11:108710000-108724400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr11:108710200-108717000	Weak transcription	Ovary	ovary
41	chr11:108710200-108722200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:108710200-108722800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:108710200-108723600	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr11:108710200-108723800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:108710200-108723800	Weak transcription	Adipose Nuclei	Adipose
46	chr11:108710200-108724400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr11:108710200-108729200	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr11:108710200-108729400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr11:108710200-108735800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr11:108710200-108738200	Weak transcription	Gastric	stomach

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