Variant report

Variant	rs11544368
Chromosome Location	chr3:42226245-42226246
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	chr3:42220051..42222663-chr3:42224406..42227123,2	K562	blood:
2	chr3:42219855..42222663-chr3:42222686..42227123,5	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs6764403	0.87[AFR][1000 genomes]
rs6767042	0.87[AFR][1000 genomes]
rs6769560	1.00[AFR][1000 genomes]
rs9311310	1.00[CHD][hapmap]
rs9829097	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529987	chr3:41921995-42591771	Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv529988	chr3:41938089-42378111	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1009125	chr3:41953873-42472253	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv536549	chr3:41953873-42472253	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1005533	chr3:41953873-42596375	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv834671	chr3:42130742-42303998	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised 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	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42213600-42236000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr3:42215000-42226400	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr3:42215200-42234000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr3:42215600-42232600	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr3:42215600-42234200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr3:42215800-42229200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr3:42216800-42228200	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr3:42217600-42232200	Weak transcription	Fetal Brain Male	brain
9	chr3:42218400-42239200	Weak transcription	Small Intestine	intestine
10	chr3:42219600-42227200	Enhancers	Stomach Mucosa	stomach
11	chr3:42219600-42229400	Weak transcription	Thymus	Thymus
12	chr3:42220200-42230200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr3:42221000-42226400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:42221000-42226400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr3:42221000-42229600	Weak transcription	Aorta	Aorta
16	chr3:42221000-42230000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr3:42221000-42232200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr3:42221200-42226400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr3:42221200-42234000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr3:42221200-42235600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr3:42221200-42236000	Weak transcription	Ovary	ovary
22	chr3:42221400-42232400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr3:42221400-42235000	Weak transcription	Colon Smooth Muscle	Colon
24	chr3:42221400-42235200	Weak transcription	Fetal Kidney	kidney
25	chr3:42221600-42229600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr3:42221600-42232600	Weak transcription	K562	blood
27	chr3:42221600-42234000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:42221600-42235200	Weak transcription	Fetal Lung	lung
29	chr3:42221600-42239200	Weak transcription	Hela-S3	cervix
30	chr3:42221600-42248200	Weak transcription	A549	lung
31	chr3:42222200-42229600	Weak transcription	Colonic Mucosa	Colon
32	chr3:42222600-42228400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr3:42223000-42232400	Strong transcription	Primary B cells from peripheral blood	blood
34	chr3:42223600-42226400	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr3:42223800-42226400	Enhancers	Brain Substantia Nigra	brain
36	chr3:42224000-42226400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr3:42224000-42227000	Enhancers	NHDF-Ad	bronchial
38	chr3:42224000-42227200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:42224000-42227200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:42224000-42227200	Enhancers	Osteobl	bone
41	chr3:42224400-42226400	Enhancers	Brain Germinal Matrix	brain
42	chr3:42224400-42235400	Weak transcription	Psoas Muscle	Psoas
43	chr3:42224600-42226600	Enhancers	Brain Hippocampus Middle	brain
44	chr3:42224800-42226400	Enhancers	Brain Cingulate Gyrus	brain
45	chr3:42224800-42227200	Enhancers	HUVEC	blood vessel
46	chr3:42225000-42226400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr3:42225000-42226400	Enhancers	Brain Anterior Caudate	brain
48	chr3:42225200-42226400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr3:42225200-42226400	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr3:42225200-42226400	Enhancers	Brain Angular Gyrus	brain

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