Variant report

Variant	rs9961266
Chromosome Location	chr18:12707524-12707525
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12705369..12707624-chr18:12718826..12720361,2	K562	blood:
2	chr18:12699736..12702348-chr18:12705277..12708356,3	K562	blood:
3	chr18:12707453..12709130-chr18:12712396..12714516,2	MCF-7	breast:
4	chr18:12706059..12708008-chr18:12949881..12951466,2	K562	blood:
5	chr18:12700615..12704798-chr18:12705051..12713643,12	MCF-7	breast:
6	chr18:12693359..12696587-chr18:12706551..12708313,3	K562	blood:

Variant related genes	Relation type
ENSG00000128789	Chromatin interaction
ENSG00000101624	Chromatin interaction

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

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

rs_ID	r²[population]
rs28458340	1.00[AMR][1000 genomes]
rs9945047	1.00[AMR][1000 genomes]
rs9945963	1.00[AMR][1000 genomes]
rs9949515	1.00[AMR][1000 genomes]
rs9955272	1.00[AMR][1000 genomes]
rs9962448	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv523743	chr18:12474505-12742809	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	esv1820040	chr18:12635601-12725236	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	esv1817845	chr18:12635601-12733705	Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	esv1821625	chr18:12635601-12733705	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
10	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
11	nsv1064273	chr18:12697601-12828251	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12703400-12709000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:12703800-12713200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:12704200-12707600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr18:12704200-12707600	Weak transcription	Esophagus	oesophagus
5	chr18:12704200-12709600	Weak transcription	HSMMtube	muscle
6	chr18:12704200-12709800	Weak transcription	Right Ventricle	heart
7	chr18:12704200-12713000	Weak transcription	Aorta	Aorta
8	chr18:12704200-12713200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr18:12704200-12713200	Weak transcription	Psoas Muscle	Psoas
10	chr18:12704200-12726800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr18:12704400-12707600	Weak transcription	Fetal Stomach	stomach
12	chr18:12704400-12710000	Weak transcription	NHLF	lung
13	chr18:12704600-12707600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr18:12704600-12708400	Weak transcription	Gastric	stomach
15	chr18:12704600-12713000	Weak transcription	Pancreas	Pancrea
16	chr18:12704800-12707600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr18:12704800-12727200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr18:12704800-12727800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr18:12705000-12707600	Weak transcription	Brain Hippocampus Middle	brain
20	chr18:12705000-12710400	Weak transcription	Small Intestine	intestine
21	chr18:12705000-12722400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr18:12705000-12725200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr18:12705000-12728600	Weak transcription	Stomach Mucosa	stomach
24	chr18:12705400-12708000	Strong transcription	HSMM	muscle
25	chr18:12705400-12714600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr18:12705400-12726000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr18:12705400-12727200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr18:12705600-12707600	Weak transcription	Spleen	Spleen
29	chr18:12705600-12707800	Strong transcription	Primary B cells from cord blood	blood
30	chr18:12705600-12708400	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr18:12705600-12708800	Strong transcription	NHEK	skin
32	chr18:12705600-12711000	Strong transcription	Primary hematopoietic stem cells	blood
33	chr18:12705600-12711400	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr18:12705600-12711800	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr18:12705600-12726000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr18:12705600-12727000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr18:12705600-12727200	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr18:12705600-12727200	Strong transcription	Duodenum Mucosa	Duodenum
39	chr18:12705600-12727200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr18:12705800-12707600	Weak transcription	Thymus	Thymus
41	chr18:12705800-12708400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr18:12705800-12708600	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr18:12705800-12711000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr18:12705800-12712600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr18:12705800-12713200	Weak transcription	Fetal Brain Male	brain
46	chr18:12705800-12714800	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr18:12705800-12726600	Strong transcription	Fetal Thymus	thymus
48	chr18:12705800-12727000	Strong transcription	Placenta	Placenta
49	chr18:12705800-12727200	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr18:12705800-12727200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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