Variant report

Variant	rs74334417
Chromosome Location	chr11:17898719-17898720
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr11:17898387-17898739	PFSK-1	brain:	n/a	chr11:17898529-17898543 chr11:17898528-17898537 chr11:17898523-17898543 chr11:17898523-17898543 chr11:17898524-17898542 chr11:17898526-17898539
2	REST	chr11:17898297-17898773	HL-60	blood:	n/a	chr11:17898529-17898543 chr11:17898528-17898537 chr11:17898523-17898543 chr11:17898523-17898543 chr11:17898524-17898542 chr11:17898526-17898539
3	REST	chr11:17898340-17898735	H1-hESC	embryonic stem cell:	n/a	chr11:17898529-17898543 chr11:17898528-17898537 chr11:17898523-17898543 chr11:17898523-17898543 chr11:17898524-17898542 chr11:17898526-17898539

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17897357..17898994-chr11:17900707..17903680,2	MCF-7	breast:
2	chr11:17896076..17899590-chr11:17904076..17908190,3	K562	blood:

Variant related genes	Relation type
SERGEF	TF binding region

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	nsv832078	chr11:17780503-17953521	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers 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	156 gene(s)	inside rSNPs	diseases
3	nsv897026	chr11:17823296-18084878	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv553590	chr11:17897414-17910664	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17838400-17971600	Weak transcription	Gastric	stomach
2	chr11:17863800-17939200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr11:17864400-17944800	Weak transcription	Ovary	ovary
4	chr11:17864800-17899400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:17868600-17914000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr11:17869000-17909600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr11:17869000-17916400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:17872600-17926600	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr11:17876400-17900200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr11:17876800-17914000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr11:17882800-17943800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr11:17884400-17919800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:17885800-17939200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr11:17886000-17965200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr11:17888200-17915600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:17888200-17916200	Weak transcription	HSMMtube	muscle
17	chr11:17891400-17907400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:17892000-17900600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:17893000-17901000	Strong transcription	Primary T cells from cord blood	blood
20	chr11:17894600-17899600	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr11:17894600-17903000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:17894800-17898800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr11:17895200-17939000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr11:17895400-17899400	Strong transcription	Aorta	Aorta
25	chr11:17895400-17901800	Enhancers	Fetal Thymus	thymus
26	chr11:17895400-17901800	Enhancers	Thymus	Thymus
27	chr11:17895800-17899800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:17895800-17914600	Weak transcription	Liver	Liver
29	chr11:17895800-17937200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:17895800-17943400	Weak transcription	Pancreas	Pancrea
31	chr11:17896000-17909400	Weak transcription	Fetal Brain Female	brain
32	chr11:17896000-17914000	Weak transcription	Dnd41	blood
33	chr11:17896000-17914200	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr11:17896000-17915600	Weak transcription	Brain Anterior Caudate	brain
35	chr11:17896000-17944600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr11:17896000-17968000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr11:17896400-17915800	Weak transcription	Fetal Intestine Small	intestine
38	chr11:17896400-17916400	Weak transcription	Right Ventricle	heart
39	chr11:17896400-17939200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr11:17896400-17968000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr11:17896800-17914200	Weak transcription	Primary hematopoietic stem cells	blood
42	chr11:17896800-17939200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr11:17897000-17899600	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr11:17897000-17914000	Weak transcription	Primary B cells from peripheral blood	blood
45	chr11:17897400-17898800	Enhancers	H1 Cell Line	embryonic stem cell
46	chr11:17897400-17900200	Weak transcription	HepG2	liver
47	chr11:17897400-17912800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr11:17897400-17939400	Weak transcription	Adipose Nuclei	Adipose
49	chr11:17897600-17905600	Weak transcription	Lung	lung
50	chr11:17897600-17928400	Weak transcription	Primary B cells from cord blood	blood

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