Variant report

Variant	rs2403322
Chromosome Location	chr11:18746909-18746910
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	chr11:18745653..18747287-chr11:18748846..18751758,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1160219	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv1046886	chr11:18547568-18781448	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv540956	chr11:18547568-18781448	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv897028	chr11:18714623-18770822	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv525192	chr11:18722791-18793360	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1047371	chr11:18731473-18763037	Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv525452	chr11:18735947-18802503	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18743800-18747400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:18743800-18747400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:18743800-18747400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:18743800-18749000	Weak transcription	Right Ventricle	heart
5	chr11:18743800-18749200	Weak transcription	Left Ventricle	heart
6	chr11:18743800-18753800	Weak transcription	Right Atrium	heart
7	chr11:18744000-18747400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr11:18744000-18747600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:18744000-18747600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr11:18744000-18747800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:18744000-18748800	Weak transcription	Ovary	ovary
12	chr11:18744000-18749000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr11:18744000-18749000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr11:18744000-18749200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr11:18744000-18749200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr11:18744000-18749400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr11:18744200-18747200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr11:18744200-18747600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:18744200-18748600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:18744200-18749000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr11:18744200-18749000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:18744200-18749400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr11:18744200-18749400	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr11:18744200-18753200	Weak transcription	Brain Angular Gyrus	brain
25	chr11:18744200-18753400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr11:18744200-18754200	Weak transcription	Fetal Brain Female	brain
27	chr11:18744200-18754400	Weak transcription	Brain Germinal Matrix	brain
28	chr11:18744400-18749000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:18744600-18749600	Enhancers	Fetal Muscle Leg	muscle
30	chr11:18745800-18747400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr11:18745800-18747400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr11:18745800-18747400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:18745800-18749000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:18745800-18749200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:18746400-18753400	Weak transcription	Brain Anterior Caudate	brain
36	chr11:18746400-18761000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:18746800-18750200	Enhancers	Fetal Muscle Trunk	muscle

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