Variant report

Variant	rs12555811
Chromosome Location	chr9:136645137-136645138
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:136596648..136598286-chr9:136643939..136646559,2	K562	blood:
2	chr9:136644899..136652439-chr9:136855339..136859914,10	MCF-7	breast:
3	chr9:136637048..136639522-chr9:136645040..136647080,2	MCF-7	breast:
4	chr9:136642803..136649542-chr9:136652545..136658247,6	MCF-7	breast:
5	chr9:136644385..136647944-chr9:136738272..136741517,4	MCF-7	breast:
6	chr9:136636638..136643675-chr9:136644136..136648487,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160293	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12555778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2510255	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55666584	1.00[ASN][1000 genomes]
rs56233098	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62576511	1.00[ASN][1000 genomes]
rs9409864	1.00[ASN][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:105 , 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	chr9:136633200-136647400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr9:136633200-136653400	Strong transcription	HUES6 Cell Line	embryonic stem cell
4	chr9:136633200-136653600	Weak transcription	Brain Angular Gyrus	brain
5	chr9:136633600-136646400	Strong transcription	Primary B cells from peripheral blood	blood
6	chr9:136633600-136646800	Strong transcription	Duodenum Mucosa	Duodenum
7	chr9:136634000-136646400	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr9:136634200-136646600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr9:136634600-136647400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:136636600-136652200	Strong transcription	HepG2	liver
11	chr9:136636800-136645400	Strong transcription	H9 Cell Line	embryonic stem cell
12	chr9:136636800-136653800	Strong transcription	NHEK	skin
13	chr9:136637200-136646200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr9:136637400-136653600	Strong transcription	Liver	Liver
15	chr9:136637600-136646800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr9:136637800-136653200	Weak transcription	Small Intestine	intestine
17	chr9:136638600-136647200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
18	chr9:136638800-136647400	Strong transcription	Placenta Amnion	Placenta Amnion
19	chr9:136639200-136653000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr9:136639400-136651000	Weak transcription	Brain Anterior Caudate	brain
21	chr9:136639400-136653000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr9:136639600-136648800	Strong transcription	NHLF	lung
23	chr9:136640000-136645200	Strong transcription	Fetal Muscle Trunk	muscle
24	chr9:136640000-136646600	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr9:136640000-136651000	Weak transcription	Primary T cells from cord blood	blood
26	chr9:136640000-136651600	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr9:136640000-136652600	Weak transcription	Stomach Mucosa	stomach
28	chr9:136640000-136658000	Weak transcription	Fetal Thymus	thymus
29	chr9:136640000-136679400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr9:136640200-136645400	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr9:136640200-136646800	Strong transcription	Pancreas	Pancrea
32	chr9:136640200-136647000	Strong transcription	Brain Germinal Matrix	brain
33	chr9:136640200-136652400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr9:136640200-136653000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr9:136640200-136658000	Weak transcription	Colon Smooth Muscle	Colon
36	chr9:136640200-136659400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr9:136640400-136645200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr9:136640400-136646600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr9:136640400-136647200	Strong transcription	Lung	lung
40	chr9:136640400-136650400	Strong transcription	Fetal Muscle Leg	muscle
41	chr9:136640400-136650600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr9:136640400-136651200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr9:136640400-136652200	Strong transcription	Fetal Intestine Large	intestine
44	chr9:136640400-136652600	Weak transcription	Brain Cingulate Gyrus	brain
45	chr9:136640400-136653000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr9:136640400-136682600	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr9:136640600-136646200	Strong transcription	Spleen	Spleen
48	chr9:136640800-136646600	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr9:136640800-136646800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr9:136640800-136648000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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