Variant report

Variant	rs12338485
Chromosome Location	chr9:136748436-136748437
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:136746436..136748479-chr9:136750005..136751914,2	K562	blood:
2	chr9:136747018..136748827-chr9:136855326..136857970,2	K562	blood:
3	chr9:136747201..136749377-chr9:136761194..136763291,2	MCF-7	breast:
4	chr9:136747124..136749714-chr9:136809806..136812182,3	MCF-7	breast:
5	chr9:136736139..136748779-chr9:136853521..136861128,82	MCF-7	breast:
6	chr9:136747009..136748873-chr9:136778099..136780165,2	MCF-7	breast:
7	chr9:136748034..136750823-chr9:136772544..136775490,4	MCF-7	breast:
8	chr9:136746415..136748463-chr9:136851208..136853267,2	MCF-7	breast:
9	chr9:136744004..136756386-chr9:136850728..136860313,29	MCF-7	breast:
10	chr9:136711485..136713454-chr9:136747435..136749712,2	K562	blood:
11	chr9:136746155..136749193-chr9:136766163..136768175,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160293	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12336628	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12338811	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7032358	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73559892	0.89[EUR][1000 genomes]
rs73559899	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv1035272	chr9:136665308-136772256	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv894123	chr9:136682408-136852501	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv894124	chr9:136716399-136870787	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv894125	chr9:136723520-136931957	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv894126	chr9:136747832-136779153	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv894127	chr9:136747832-136811772	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136729600-136780000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr9:136729800-136762600	Weak transcription	Right Ventricle	heart
3	chr9:136736000-136760000	Weak transcription	Primary B cells from cord blood	blood
4	chr9:136736800-136756200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr9:136737200-136749000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr9:136740000-136754800	Weak transcription	Osteobl	bone
7	chr9:136740200-136757400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr9:136741800-136753000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr9:136741800-136753200	Weak transcription	A549	lung
10	chr9:136744000-136755200	Enhancers	Fetal Muscle Leg	muscle
11	chr9:136744400-136751200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr9:136744600-136748600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr9:136744600-136751600	Weak transcription	Fetal Intestine Large	intestine
14	chr9:136744600-136751800	Weak transcription	GM12878-XiMat	blood
15	chr9:136744600-136753000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr9:136745400-136748600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr9:136745400-136749600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr9:136745600-136748800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr9:136745600-136749000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr9:136745600-136749600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr9:136745600-136754600	Weak transcription	Hela-S3	cervix
22	chr9:136745800-136748800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr9:136745800-136748800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr9:136745800-136748800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr9:136745800-136748800	Enhancers	Esophagus	oesophagus
26	chr9:136745800-136755600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr9:136746000-136748600	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr9:136746000-136748800	Enhancers	HSMMtube	muscle
29	chr9:136746200-136748600	Genic enhancers	Fetal Intestine Small	intestine
30	chr9:136746200-136749000	Enhancers	HSMM	muscle
31	chr9:136746200-136750200	Weak transcription	Primary B cells from peripheral blood	blood
32	chr9:136746200-136750800	Enhancers	Fetal Brain Male	brain
33	chr9:136746400-136748600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr9:136746400-136748600	Enhancers	Fetal Lung	lung
35	chr9:136746400-136748800	Enhancers	H1 Cell Line	embryonic stem cell
36	chr9:136746600-136748600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr9:136746600-136749400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr9:136746800-136750000	Weak transcription	Ovary	ovary
39	chr9:136747000-136748800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr9:136747200-136748800	Enhancers	Spleen	Spleen
41	chr9:136747200-136752400	Weak transcription	Colon Smooth Muscle	Colon
42	chr9:136747200-136753600	Weak transcription	Stomach Mucosa	stomach
43	chr9:136747400-136748600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr9:136747400-136748600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr9:136747400-136748600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr9:136747400-136748800	Enhancers	Brain Hippocampus Middle	brain
47	chr9:136747600-136749600	Enhancers	HMEC	breast
48	chr9:136747600-136749800	Enhancers	Pancreas	Pancrea
49	chr9:136747600-136750000	Weak transcription	Fetal Heart	heart
50	chr9:136747600-136750400	Weak transcription	Lung	lung

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