Variant report

Variant	rs557768214
Chromosome Location	chr11:46763752-46763753
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46761363..46764873-chr11:46765216..46768275,3	K562	blood:
2	chr11:46756420..46758070-chr11:46763484..46765200,2	MCF-7	breast:
3	chr11:46719204..46720865-chr11:46763113..46765630,2	K562	blood:
4	chr11:46742083..46744335-chr11:46763243..46766196,2	K562	blood:
5	chr11:46763360..46766169-chr11:46766734..46769498,4	K562	blood:
6	chr11:46753339..46754886-chr11:46762231..46764899,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv430382	chr11:46743135-46849360	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	esv3388509	chr11:46763105-46818814	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46749800-46764000	Weak transcription	Aorta	Aorta
2	chr11:46753000-46786600	Weak transcription	Right Atrium	heart
3	chr11:46759000-46768000	Strong transcription	Liver	Liver
4	chr11:46760200-46764600	Weak transcription	Psoas Muscle	Psoas
5	chr11:46760200-46786800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:46760200-46794800	Strong transcription	A549	lung
7	chr11:46760400-46764600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:46760400-46765600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:46760400-46777400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr11:46760400-46781400	Weak transcription	Stomach Mucosa	stomach
11	chr11:46760400-46795600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:46760600-46785800	Strong transcription	Fetal Stomach	stomach
13	chr11:46760600-46793800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:46760800-46764200	Weak transcription	Colonic Mucosa	Colon
15	chr11:46760800-46765800	Weak transcription	Fetal Heart	heart
16	chr11:46761000-46766200	Strong transcription	Fetal Intestine Small	intestine
17	chr11:46761200-46772400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:46761200-46787000	Strong transcription	Fetal Muscle Trunk	muscle
19	chr11:46761200-46787600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:46761400-46764400	Weak transcription	Colon Smooth Muscle	Colon
21	chr11:46761400-46786600	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr11:46761400-46795800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr11:46761400-46840000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:46761400-46845200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:46761600-46764000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr11:46761600-46776200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:46761600-46787000	Strong transcription	Fetal Intestine Large	intestine
28	chr11:46761600-46824600	Strong transcription	Fetal Thymus	thymus
29	chr11:46761800-46765400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr11:46761800-46766200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:46762000-46765000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr11:46762000-46765400	Weak transcription	Fetal Kidney	kidney
33	chr11:46762000-46767600	Weak transcription	Small Intestine	intestine
34	chr11:46762200-46764400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:46762200-46776200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:46762400-46764200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr11:46762400-46764200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr11:46762400-46787000	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr11:46762400-46794200	Strong transcription	Adipose Nuclei	Adipose
40	chr11:46762600-46764200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr11:46762600-46765600	Strong transcription	Duodenum Mucosa	Duodenum
42	chr11:46762600-46769800	Strong transcription	GM12878-XiMat	blood
43	chr11:46762600-46770000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:46762600-46770000	Strong transcription	Primary hematopoietic stem cells	blood
45	chr11:46762600-46770000	Strong transcription	HUVEC	blood vessel
46	chr11:46762600-46770000	Strong transcription	NHDF-Ad	bronchial
47	chr11:46762600-46770000	Strong transcription	Osteobl	bone
48	chr11:46762600-46770200	Strong transcription	HSMMtube	muscle
49	chr11:46762600-46776600	Strong transcription	Brain Germinal Matrix	brain
50	chr11:46762600-46778600	Strong transcription	HSMM	muscle

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