Variant report

Variant	rs12552391
Chromosome Location	chr9:136654699-136654700
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:136652568..136661500-chr9:136853760..136861284,29	MCF-7	breast:
2	chr9:136642803..136649542-chr9:136652545..136658247,6	MCF-7	breast:
3	chr9:136652969..136655404-chr9:136657500..136660363,3	K562	blood:
4	chr9:136649149..136651689-chr9:136653556..136656120,3	K562	blood:
5	chr9:136645262..136664386-chr9:136851810..136861142,57	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160293	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12551616	0.86[AMR][1000 genomes]
rs12555690	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	nsv894118	chr9:136624542-136678954	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv894119	chr9:136629399-136657960	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	nsv894120	chr9:136629399-136662638	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers 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
14	nsv894121	chr9:136629399-136692787	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer 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
15	nsv894122	chr9:136632662-136760639	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS 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	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136624800-136657800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:136640000-136658000	Weak transcription	Fetal Thymus	thymus
3	chr9:136640000-136679400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr9:136640200-136658000	Weak transcription	Colon Smooth Muscle	Colon
5	chr9:136640200-136659400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr9:136640400-136682600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr9:136640800-136667000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr9:136643000-136658000	Weak transcription	Left Ventricle	heart
9	chr9:136643200-136689800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr9:136643800-136672600	Weak transcription	Aorta	Aorta
11	chr9:136644800-136658000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr9:136645000-136664200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr9:136645200-136656600	Weak transcription	NHDF-Ad	bronchial
14	chr9:136645200-136658000	Strong transcription	Fetal Stomach	stomach
15	chr9:136646600-136658000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr9:136647400-136654800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr9:136647800-136657600	Strong transcription	Osteobl	bone
18	chr9:136648000-136657600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr9:136648600-136658200	Weak transcription	Fetal Heart	heart
20	chr9:136649000-136656600	Strong transcription	Placenta Amnion	Placenta Amnion
21	chr9:136649000-136657600	Strong transcription	Brain Germinal Matrix	brain
22	chr9:136650000-136679400	Weak transcription	Right Atrium	heart
23	chr9:136650600-136688800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr9:136651200-136656000	Genic enhancers	Fetal Muscle Trunk	muscle
25	chr9:136651200-136656400	Genic enhancers	Placenta	Placenta
26	chr9:136651400-136655000	Weak transcription	Fetal Lung	lung
27	chr9:136651400-136657200	Weak transcription	Fetal Kidney	kidney
28	chr9:136651400-136657600	Strong transcription	Pancreas	Pancrea
29	chr9:136651400-136657800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr9:136651400-136668200	Weak transcription	NH-A	brain
31	chr9:136651400-136686400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr9:136651400-136689000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr9:136651600-136655600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr9:136651600-136656000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr9:136651600-136656000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr9:136651600-136658000	Weak transcription	A549	lung
37	chr9:136651600-136658000	Weak transcription	HMEC	breast
38	chr9:136651600-136658400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr9:136651600-136658400	Weak transcription	Ovary	ovary
40	chr9:136652200-136655400	Enhancers	Adipose Nuclei	Adipose
41	chr9:136652400-136655400	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr9:136652400-136655400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr9:136652600-136655400	Enhancers	Stomach Mucosa	stomach
44	chr9:136652600-136658000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr9:136652800-136655400	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr9:136652800-136655600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr9:136652800-136657800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr9:136653000-136655400	Enhancers	HUVEC	blood vessel
49	chr9:136653000-136655600	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr9:136653000-136657600	Strong transcription	NHLF	lung

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