Variant report

Variant	rs545136039
Chromosome Location	chr11:32951530-32951531
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr11:32951285-32951688	HL-60	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:32949447..32951560-chr11:32996072..32998442,2	K562	blood:
2	chr11:17096881..17099234-chr11:32950894..32953291,2	K562	blood:
3	chr11:32942975..32945695-chr11:32951329..32953837,2	K562	blood:
4	chr11:32950716..32952924-chr11:32954824..32956515,2	K562	blood:
5	chr11:32946755..32948347-chr11:32949662..32952100,2	MCF-7	breast:
6	chr11:32935648..32937235-chr11:32951020..32953921,2	MCF-7	breast:

No data

Variant related genes	Relation type
QSER1	TF binding region
ENSG00000110700	Chromatin interaction
ENSG00000060749	Chromatin interaction
ENSG00000201403	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758262	chr11:32714643-33049940	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759815	chr11:32714643-33049940	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	esv2757434	chr11:32792784-32958609	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	esv34742	chr11:32796092-33004024	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	esv2753057	chr11:32796124-33061724	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	esv2753743	chr11:32796124-33084924	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
7	nsv897190	chr11:32801921-32951836	Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
8	nsv1040484	chr11:32951066-33093204	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS 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	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32916000-32953200	Weak transcription	Pancreas	Pancrea
2	chr11:32916200-32953200	Weak transcription	Right Ventricle	heart
3	chr11:32916400-32952800	Weak transcription	Fetal Intestine Small	intestine
4	chr11:32916400-32953200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr11:32916400-32953400	Weak transcription	NHLF	lung
6	chr11:32916400-32953600	Weak transcription	NHDF-Ad	bronchial
7	chr11:32917000-32952800	Weak transcription	Primary B cells from cord blood	blood
8	chr11:32917400-32953000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:32917600-32952800	Weak transcription	Fetal Stomach	stomach
10	chr11:32918000-32953200	Weak transcription	Fetal Brain Female	brain
11	chr11:32918600-32953600	Weak transcription	Fetal Brain Male	brain
12	chr11:32919600-32953000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:32921200-32952800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr11:32921200-32953200	Weak transcription	Primary T cells from cord blood	blood
15	chr11:32922800-32952800	Weak transcription	Fetal Muscle Leg	muscle
16	chr11:32924000-32952800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:32924000-32952800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr11:32924000-32953200	Weak transcription	Left Ventricle	heart
19	chr11:32926400-32952800	Weak transcription	Ovary	ovary
20	chr11:32927200-32953200	Weak transcription	Fetal Heart	heart
21	chr11:32927400-32953400	Weak transcription	Fetal Kidney	kidney
22	chr11:32928200-32952800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:32933400-32953200	Weak transcription	K562	blood
24	chr11:32935400-32953400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr11:32936600-32952800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr11:32936600-32952800	Weak transcription	HepG2	liver
27	chr11:32936800-32953000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:32937400-32953400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr11:32938200-32953200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr11:32940000-32952800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr11:32940200-32953200	Weak transcription	NH-A	brain
32	chr11:32940200-32953400	Weak transcription	Psoas Muscle	Psoas
33	chr11:32940400-32953200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr11:32941000-32953200	Weak transcription	Fetal Lung	lung
35	chr11:32941200-32952800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr11:32941200-32953400	Weak transcription	Colon Smooth Muscle	Colon
37	chr11:32941400-32952200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr11:32941400-32952600	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr11:32941400-32952800	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr11:32941400-32952800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:32941400-32953000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr11:32941400-32953200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:32941400-32953200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr11:32941400-32953400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr11:32941800-32952800	Weak transcription	Fetal Intestine Large	intestine
46	chr11:32941800-32953200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr11:32942000-32953000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:32943200-32953200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr11:32943200-32953200	Weak transcription	HSMMtube	muscle
50	chr11:32943800-32952800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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