Variant report

Variant	rs1011341
Chromosome Location	chr9:7164873-7164874
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:7148888..7150780-chr9:7164097..7166257,2	K562	blood:
2	chr9:7163757..7166355-chr9:7173278..7174995,2	MCF-7	breast:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10511462	0.90[CHB][hapmap];0.86[JPT][hapmap];0.92[YRI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10815533	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1467700	0.82[AMR][1000 genomes]
rs1887871	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1887872	0.87[ASN][1000 genomes]
rs1928212	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1958344	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2026709	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2094613	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2248904	0.82[AMR][1000 genomes]
rs2381570	0.91[CHB][hapmap];0.87[JPT][hapmap];0.93[YRI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2381572	0.82[AMR][1000 genomes]
rs2770728	0.90[ASN][1000 genomes]
rs2770729	0.85[ASN][1000 genomes]
rs2770730	0.86[ASN][1000 genomes]
rs2770731	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2770732	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2770733	0.86[ASN][1000 genomes]
rs2770734	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2770735	0.82[AMR][1000 genomes]
rs2770736	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2770737	0.82[AMR][1000 genomes]
rs2770741	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2770742	0.87[ASN][1000 genomes]
rs2770743	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2770744	0.83[ASN][1000 genomes]
rs2770745	0.87[ASN][1000 genomes]
rs2770746	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2770747	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2820918	0.85[ASN][1000 genomes]
rs2820919	0.81[ASN][1000 genomes]
rs2820920	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2820922	0.82[AMR][1000 genomes]
rs2820923	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2820925	0.84[ASN][1000 genomes]
rs2820926	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2820927	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2820928	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2820929	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2820930	0.86[ASN][1000 genomes]
rs2820931	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2820934	0.88[ASN][1000 genomes]
rs3753002	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7022054	0.86[CHB][hapmap];0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7874501	0.90[CHB][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs913584	0.86[CHB][hapmap];0.83[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs913587	0.90[CHB][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs913589	0.90[CHB][hapmap];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs913590	0.85[CHB][hapmap];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs971380	0.89[ASN][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	nsv892166	chr9:6602821-7222495	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1023906	chr9:6731786-7372132	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv613259	chr9:7032776-7541338	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1015874	chr9:7048807-7434890	Weak transcription Enhancers Strong transcription Genic enhancers 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	3 gene(s)	inside rSNPs	diseases
5	nsv539971	chr9:7048807-7434890	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv892190	chr9:7094860-7186074	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv892191	chr9:7150997-7173752	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv892192	chr9:7153009-7257340	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
9	nsv519762	chr9:7163530-7172498	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv528873	chr9:7163530-7177936	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7147200-7171000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr9:7147400-7165600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:7147400-7174600	Weak transcription	NHEK	skin
4	chr9:7147800-7165200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr9:7148600-7172200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr9:7148600-7185400	Weak transcription	HMEC	breast
7	chr9:7149000-7165000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr9:7149000-7165200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr9:7149200-7165200	Weak transcription	Thymus	Thymus
10	chr9:7149400-7165200	Weak transcription	Adipose Nuclei	Adipose
11	chr9:7149600-7172200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr9:7149600-7185400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr9:7149600-7186200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr9:7149800-7172800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr9:7150400-7175800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr9:7150600-7165200	Weak transcription	GM12878-XiMat	blood
17	chr9:7150800-7165000	Weak transcription	Esophagus	oesophagus
18	chr9:7150800-7165200	Weak transcription	Spleen	Spleen
19	chr9:7150800-7165400	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr9:7150800-7169400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr9:7150800-7172800	Weak transcription	Fetal Muscle Leg	muscle
22	chr9:7151200-7165000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr9:7151200-7171000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr9:7151200-7173000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr9:7151400-7165000	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr9:7151400-7165000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr9:7151400-7165000	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr9:7151800-7165000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr9:7151800-7188600	Weak transcription	Colonic Mucosa	Colon
30	chr9:7152000-7165400	Weak transcription	Placenta	Placenta
31	chr9:7152000-7172600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr9:7154000-7165200	Weak transcription	Brain Hippocampus Middle	brain
33	chr9:7154000-7165600	Weak transcription	Brain Substantia Nigra	brain
34	chr9:7154200-7165200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr9:7154400-7165000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr9:7154400-7165200	Weak transcription	Fetal Intestine Large	intestine
37	chr9:7154400-7174400	Weak transcription	Aorta	Aorta
38	chr9:7154600-7165200	Weak transcription	Lung	lung
39	chr9:7154600-7167200	Weak transcription	Pancreas	Pancrea
40	chr9:7154600-7169600	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr9:7154800-7171000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr9:7160800-7174400	Weak transcription	Fetal Stomach	stomach
43	chr9:7160800-7175200	Strong transcription	Primary B cells from cord blood	blood
44	chr9:7160800-7182000	Weak transcription	Dnd41	blood
45	chr9:7161200-7165000	Weak transcription	Stomach Mucosa	stomach
46	chr9:7161200-7165200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr9:7161400-7167200	Weak transcription	Brain Cingulate Gyrus	brain
48	chr9:7161600-7169400	Weak transcription	Fetal Intestine Small	intestine
49	chr9:7161800-7165200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr9:7161800-7167200	Weak transcription	Gastric	stomach

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