Variant report

Variant	rs138877984
Chromosome Location	chr11:71933337-71933338
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:71933202-71933350	GM12878	blood:	n/a	n/a
2	STAT3	chr11:71933258-71933458	MCF10A-Er-Src	breast:	n/a	n/a
3	HCFC1	chr11:71932747-71937190	Hela-S3	cervix:	n/a	n/a
4	RCOR1	chr11:71933273-71935391	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:71932379..71935171-chr11:72141438..72143643,2	K562	blood:
2	chr11:71823487..71825907-chr11:71932451..71935590,3	K562	blood:
3	chr11:71903106..71905888-chr11:71932566..71934811,2	K562	blood:
4	chr11:71928000..71929697-chr11:71932021..71933671,2	MCF-7	breast:
5	chr11:71929797..71931441-chr11:71932339..71934152,2	MCF-7	breast:
6	chr11:71926160..71927705-chr11:71931885..71934510,2	MCF-7	breast:
7	chr11:71933144..71936187-chr11:72142812..72145474,4	MCF-7	breast:
8	chr11:71821560..71824482-chr11:71933153..71936536,4	MCF-7	breast:
9	chr11:71705470..71708103-chr11:71933163..71935736,2	K562	blood:

No data

Variant related genes	Relation type
INPPL1	TF binding region
ENSG00000110200	Chromatin interaction
ENSG00000162129	Chromatin interaction
ENSG00000137522	Chromatin interaction
ENSG00000110195	Chromatin interaction
ENSG00000165457	Chromatin interaction

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	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv897908	chr11:71927468-71956890	ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv897909	chr11:71927468-71960554	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv3356829	chr11:71933329-71936177	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71928000-71933600	Weak transcription	Pancreas	Pancrea
2	chr11:71929400-71933400	Weak transcription	Primary T cells from cord blood	blood
3	chr11:71929600-71933600	Weak transcription	Colonic Mucosa	Colon
4	chr11:71929800-71933400	Weak transcription	Lung	lung
5	chr11:71929800-71933600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr11:71931600-71933600	Enhancers	Fetal Muscle Leg	muscle
7	chr11:71931600-71933800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr11:71931800-71933400	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr11:71931800-71933600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:71931800-71933600	Enhancers	Adipose Nuclei	Adipose
11	chr11:71932200-71933600	Enhancers	Primary hematopoietic stem cells	blood
12	chr11:71932200-71933600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr11:71932200-71933600	Enhancers	Fetal Muscle Trunk	muscle
14	chr11:71932200-71933800	Enhancers	Placenta	Placenta
15	chr11:71932400-71933400	Weak transcription	Thymus	Thymus
16	chr11:71932400-71933600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr11:71932400-71933600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr11:71932400-71933600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:71932400-71934000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:71932400-71934200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr11:71932600-71933400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr11:71932600-71933400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr11:71932600-71933400	Enhancers	Stomach Smooth Muscle	stomach
24	chr11:71932600-71933400	Enhancers	K562	blood
25	chr11:71932600-71933600	Enhancers	Duodenum Mucosa	Duodenum
26	chr11:71932600-71933800	Enhancers	H1 Cell Line	embryonic stem cell
27	chr11:71932600-71933800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:71932600-71933800	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr11:71932800-71933400	Enhancers	Brain Anterior Caudate	brain
30	chr11:71932800-71933600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:71932800-71933600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr11:71932800-71933600	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr11:71932800-71933600	Enhancers	Liver	Liver
34	chr11:71932800-71933600	Enhancers	Brain Substantia Nigra	brain
35	chr11:71932800-71933600	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr11:71932800-71933600	Enhancers	Fetal Lung	lung
37	chr11:71932800-71933800	Enhancers	Fetal Intestine Large	intestine
38	chr11:71932800-71933800	Enhancers	Fetal Stomach	stomach
39	chr11:71932800-71934000	Flanking Active TSS	GM12878-XiMat	blood
40	chr11:71932800-71934200	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr11:71933000-71933400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr11:71933000-71933400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:71933000-71933400	Enhancers	Colon Smooth Muscle	Colon
44	chr11:71933000-71933400	Weak transcription	Right Atrium	heart
45	chr11:71933000-71933600	Enhancers	Primary B cells from peripheral blood	blood
46	chr11:71933000-71933600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:71933000-71933600	Enhancers	Spleen	Spleen
48	chr11:71933000-71933800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:71933000-71933800	Enhancers	Brain Hippocampus Middle	brain
50	chr11:71933000-71933800	Enhancers	Fetal Thymus	thymus

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