Variant report

Variant	rs977581
Chromosome Location	chr18:9119035-9119036
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr18:9118919-9119119	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:9102444..9104093-chr18:9117938..9120762,2	MCF-7	breast:
2	chr18:9117343..9120126-chr18:9132921..9134783,2	K562	blood:
3	chr18:9117343..9119164-chr18:9132921..9135865,2	K562	blood:

Variant related genes	Relation type
NDUFV2	TF binding region
ENSG00000263847	TF binding region
ENSG00000265257	Chromatin interaction
ENSG00000266053	Chromatin interaction
ENSG00000178127	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11661711	1.00[CEU][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12607307	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12958093	1.00[CEU][hapmap]
rs1472944	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17413793	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs1893198	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs2155707	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs4078337	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4130178	0.83[CHB][hapmap]
rs4131992	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs4148966	0.93[ASN][1000 genomes]
rs4148967	1.00[CEU][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4603624	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs4797356	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4797361	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs4798772	0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs4798776	0.95[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4798778	0.96[CEU][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4798786	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs4798791	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs56046470	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6417048	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6506644	0.82[CHB][hapmap]
rs6506649	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs7228251	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs7229883	0.82[CHB][hapmap]
rs7235514	0.82[CHB][hapmap]
rs7238828	1.00[YRI][hapmap]
rs7504137	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7504603	0.95[CEU][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7505120	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7506291	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs8083078	0.83[CHB][hapmap]
rs8087306	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs8089693	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs8092613	0.83[CHB][hapmap]
rs874250	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs894755	0.91[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap]
rs906807	0.83[CHB][hapmap];0.81[ASN][1000 genomes]
rs9652952	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs9945360	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9946176	1.00[YRI][hapmap]
rs9946468	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs9946695	0.91[CHB][hapmap];0.87[JPT][hapmap]
rs9947027	1.00[CEU][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.94[EUR][1000 genomes]
rs9948560	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs9952006	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9960129	0.96[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap]
rs9966631	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv431971	chr18:9081185-9326852	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1056258	chr18:9094498-9181498	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv909364	chr18:9114096-9186684	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr18:9104400-9130000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:9106200-9123200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr18:9107000-9135200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr18:9107400-9135400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:9107600-9123200	Weak transcription	Thymus	Thymus
6	chr18:9107800-9134600	Weak transcription	Fetal Brain Male	brain
7	chr18:9108200-9123000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr18:9108200-9127200	Weak transcription	Fetal Brain Female	brain
9	chr18:9109600-9123200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr18:9111200-9125400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr18:9111600-9126800	Weak transcription	Colonic Mucosa	Colon
12	chr18:9111800-9123400	Weak transcription	Fetal Stomach	stomach
13	chr18:9113000-9119800	Enhancers	Brain Hippocampus Middle	brain
14	chr18:9114000-9119600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr18:9114000-9121000	Weak transcription	Fetal Muscle Leg	muscle
16	chr18:9114000-9123200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr18:9114000-9123400	Weak transcription	Fetal Intestine Small	intestine
18	chr18:9114000-9127400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr18:9114000-9130800	Weak transcription	Ovary	ovary
20	chr18:9115400-9134600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr18:9115600-9119600	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr18:9115600-9119800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr18:9115800-9134800	Strong transcription	Dnd41	blood
24	chr18:9116000-9119600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr18:9116600-9119200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr18:9116600-9119400	Enhancers	Primary hematopoietic stem cells	blood
27	chr18:9116600-9119400	Enhancers	Stomach Mucosa	stomach
28	chr18:9116600-9119800	Enhancers	Brain Cingulate Gyrus	brain
29	chr18:9116600-9120400	Enhancers	Brain Substantia Nigra	brain
30	chr18:9116800-9119200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr18:9116800-9119800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr18:9116800-9135200	Strong transcription	Fetal Thymus	thymus
33	chr18:9117200-9119200	Enhancers	Fetal Heart	heart
34	chr18:9117200-9119600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr18:9117200-9134800	Weak transcription	Brain Germinal Matrix	brain
36	chr18:9117400-9119200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr18:9117400-9119200	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr18:9117400-9123400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr18:9117400-9125800	Weak transcription	Right Atrium	heart
40	chr18:9117400-9132000	Strong transcription	Fetal Intestine Large	intestine
41	chr18:9117400-9135200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr18:9117400-9135600	Weak transcription	Esophagus	oesophagus
43	chr18:9117400-9135800	Weak transcription	Gastric	stomach
44	chr18:9117600-9119200	Enhancers	Primary B cells from peripheral blood	blood
45	chr18:9117600-9119200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr18:9117600-9119400	Enhancers	Colon Smooth Muscle	Colon
47	chr18:9117600-9119800	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr18:9117600-9123400	Weak transcription	Left Ventricle	heart
49	chr18:9117600-9123400	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr18:9117600-9127400	Weak transcription	Spleen	Spleen

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