Variant report

Variant	rs539280444
Chromosome Location	chr9:136624344-136624345
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:136623159..136624701-chr9:136627803..136630667,2	K562	blood:
2	chr9:136622711..136625053-chr9:136627344..136629303,3	MCF-7	breast:
3	chr9:136622818..136624758-chr9:136635199..136637676,2	MCF-7	breast:
4	chr9:136623857..136625916-chr9:136737465..136739989,2	MCF-7	breast:
5	chr9:136617189..136619895-chr9:136623419..136625619,3	MCF-7	breast:
6	chr9:136622701..136625023-chr9:136856638..136859174,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256225	Chromatin interaction
ENSG00000160293	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894081	chr9:136227260-136678954	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv894086	chr9:136281753-136657960	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	nsv530972	chr9:136324358-136643044	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv870051	chr9:136459745-136656889	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv894114	chr9:136538798-136779153	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv428546	chr9:136541745-136720872	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv831745	chr9:136593702-136780273	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv894117	chr9:136600201-136716399	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv3429780	chr9:136607447-136628052	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv831746	chr9:136607829-136750740	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv466622	chr9:136617292-136658816	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv615691	chr9:136617292-136658816	Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	esv1842510	chr9:136617805-136626037	Bivalent Enhancer Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	esv3481750	chr9:136623231-136628229	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	esv3379016	chr9:136624031-136627429	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	esv3481755	chr9:136624156-136627504	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	esv3514367	chr9:136624331-136627329	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 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	chr9:136617000-136629000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:136617400-136628800	Weak transcription	HSMM	muscle
3	chr9:136618000-136628200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr9:136619400-136629200	Weak transcription	HSMMtube	muscle
5	chr9:136619600-136626000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr9:136619600-136626600	Weak transcription	Lung	lung
7	chr9:136619600-136631200	Weak transcription	Fetal Brain Male	brain
8	chr9:136620200-136626000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr9:136620200-136626600	Weak transcription	Pancreas	Pancrea
10	chr9:136620200-136626600	Weak transcription	NHEK	skin
11	chr9:136620400-136625400	Weak transcription	Osteobl	bone
12	chr9:136620400-136626600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr9:136620400-136629000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr9:136620400-136632400	Weak transcription	NHDF-Ad	bronchial
15	chr9:136620600-136624400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr9:136620600-136626600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr9:136620600-136628400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr9:136620600-136628600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr9:136620800-136624400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr9:136620800-136624400	Weak transcription	Ovary	ovary
21	chr9:136620800-136625400	Weak transcription	Fetal Intestine Large	intestine
22	chr9:136620800-136626200	Weak transcription	Fetal Muscle Leg	muscle
23	chr9:136621000-136624400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr9:136621000-136624400	Weak transcription	NHLF	lung
25	chr9:136621000-136626600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr9:136621000-136627800	Weak transcription	Fetal Brain Female	brain
27	chr9:136621200-136624400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr9:136621200-136624400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr9:136621200-136624400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr9:136621200-136632600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr9:136621400-136624400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr9:136621600-136628600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr9:136621800-136624400	Weak transcription	Fetal Intestine Small	intestine
34	chr9:136621800-136624600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr9:136621800-136628600	Weak transcription	Spleen	Spleen
36	chr9:136622000-136629000	Weak transcription	GM12878-XiMat	blood
37	chr9:136622200-136629000	Weak transcription	HMEC	breast
38	chr9:136622800-136631000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr9:136623000-136624600	Enhancers	Liver	Liver
40	chr9:136623000-136625200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr9:136623000-136625400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr9:136623000-136626600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr9:136623000-136629200	Weak transcription	Primary B cells from cord blood	blood
44	chr9:136623000-136629600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr9:136623200-136628600	Weak transcription	HepG2	liver
46	chr9:136623400-136626400	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr9:136623400-136629400	Strong transcription	Fetal Stomach	stomach
48	chr9:136623600-136628600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr9:136623600-136628600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr9:136623600-136631400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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