Variant report

Variant	rs1040978
Chromosome Location	chr9:95608248-95608249
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:95601889..95603930-chr9:95606539..95609176,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10124671	0.92[CHB][hapmap];0.90[JPT][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10733745	0.89[EUR][1000 genomes]
rs10739930	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10739931	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10739935	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10761174	1.00[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10821019	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13301210	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2057457	1.00[CEU][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4110696	0.85[EUR][1000 genomes]
rs4465027	1.00[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4744153	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs6479432	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6479433	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7038387	0.82[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs7040331	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7860417	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7868874	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7875611	0.81[EUR][1000 genomes]
rs965654	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831654	chr9:95542920-95720961	ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv893574	chr9:95580376-95688099	Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr9:95598000-95616800	ZNF genes & repeats	Liver	Liver
2	chr9:95599800-95608400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr9:95600000-95608400	Weak transcription	Placenta	Placenta
4	chr9:95600000-95610000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:95603400-95616200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:95603600-95609000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr9:95604400-95608400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr9:95605000-95608400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr9:95605000-95611200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr9:95605000-95624200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr9:95605400-95608400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr9:95605400-95611000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
13	chr9:95605600-95613200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
14	chr9:95605800-95608400	Weak transcription	Aorta	Aorta
15	chr9:95605800-95610800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr9:95605800-95613400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr9:95605800-95615600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr9:95606000-95612400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
19	chr9:95606000-95613400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr9:95606200-95614000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
21	chr9:95606400-95608800	Weak transcription	Fetal Thymus	thymus
22	chr9:95606400-95611200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
23	chr9:95606600-95613600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
24	chr9:95606800-95610200	Weak transcription	Fetal Stomach	stomach
25	chr9:95606800-95619600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr9:95607400-95611000	ZNF genes & repeats	HMEC	breast
27	chr9:95607400-95613400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
28	chr9:95607600-95610800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
29	chr9:95607600-95611000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
30	chr9:95607600-95611000	ZNF genes & repeats	A549	lung
31	chr9:95607600-95611000	ZNF genes & repeats	HSMM	muscle
32	chr9:95607600-95611200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr9:95607600-95611200	ZNF genes & repeats	Primary B cells from cord blood	blood
34	chr9:95607600-95616200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
35	chr9:95607800-95610400	ZNF genes & repeats	Brain Anterior Caudate	brain
36	chr9:95607800-95610600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr9:95607800-95611000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
38	chr9:95607800-95611000	ZNF genes & repeats	NH-A	brain
39	chr9:95607800-95611200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
40	chr9:95607800-95611200	ZNF genes & repeats	Fetal Lung	lung
41	chr9:95607800-95611200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
42	chr9:95607800-95612400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
43	chr9:95607800-95612400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
44	chr9:95607800-95612400	ZNF genes & repeats	Brain Germinal Matrix	brain
45	chr9:95607800-95612600	ZNF genes & repeats	Fetal Muscle Leg	muscle
46	chr9:95607800-95612800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
47	chr9:95607800-95613200	ZNF genes & repeats	Fetal Intestine Large	intestine
48	chr9:95607800-95613400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
49	chr9:95607800-95614200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr9:95608000-95610200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain

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