Variant report

Variant	rs2812310
Chromosome Location	chr9:108240797-108240798
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:108236271..108237862-chr9:108239402..108241098,2	K562	blood:
2	chr9:108231365..108233350-chr9:108238200..108241165,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10761100	0.91[ASN][1000 genomes]
rs10816278	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs10820810	0.92[ASW][hapmap];0.94[CHB][hapmap];0.88[CHD][hapmap];0.86[GIH][hapmap];0.89[JPT][hapmap];0.92[LWK][hapmap];0.85[MEX][hapmap];0.98[MKK][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10820812	0.88[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs10820813	0.84[GIH][hapmap];0.83[JPT][hapmap]
rs1327354	0.94[CHB][hapmap];0.87[CHD][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs1360089	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1806898	0.94[CHB][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs1815383	0.94[CHB][hapmap];0.94[JPT][hapmap];0.90[YRI][hapmap];0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1960023	0.94[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs1987634	0.86[ASN][1000 genomes]
rs2225246	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2427769	0.87[ASN][1000 genomes]
rs2518106	0.82[CHB][hapmap];0.86[GIH][hapmap]
rs2518112	0.92[ASW][hapmap];0.94[CHB][hapmap];0.88[CHD][hapmap];0.86[GIH][hapmap];0.89[JPT][hapmap];0.97[LWK][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2518114	0.94[CHB][hapmap];0.89[JPT][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2518116	0.94[CHB][hapmap];0.88[CHD][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs2518120	0.94[CHB][hapmap];0.89[JPT][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2518123	0.94[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs2518124	0.84[ASN][1000 genomes]
rs2518128	0.82[CHB][hapmap]
rs2518131	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs2768279	0.94[CHB][hapmap];0.87[CHD][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs2768283	0.94[CHB][hapmap];0.89[JPT][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2768290	0.94[CHB][hapmap];0.84[CHD][hapmap];0.89[GIH][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs2768291	0.94[CHB][hapmap];0.88[JPT][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2768292	0.84[ASN][1000 genomes]
rs2768294	0.92[ASW][hapmap];0.82[CHB][hapmap];0.84[GIH][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs2771038	0.88[CHB][hapmap];0.83[JPT][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2771041	0.94[CHB][hapmap];0.94[JPT][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2771042	0.88[CHB][hapmap];0.83[JPT][hapmap];0.90[YRI][hapmap];0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2812297	0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs2812303	0.88[CHB][hapmap];0.83[JPT][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2812307	0.98[ASN][1000 genomes]
rs2812308	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4742947	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4742948	0.91[ASN][1000 genomes]
rs6477449	0.89[ASN][1000 genomes]
rs7020083	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7357632	0.94[CHB][hapmap];0.88[CHD][hapmap];0.89[JPT][hapmap];0.91[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	nsv1037750	chr9:108027692-108251733	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	9 gene(s)	inside rSNPs	diseases
2	nsv1053973	chr9:108199177-108300186	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv615115	chr9:108205262-108298183	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv893692	chr9:108218852-108320988	ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
5	nsv1050141	chr9:108219667-108317424	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:108211000-108248000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr9:108214600-108309800	Weak transcription	HUVEC	blood vessel
3	chr9:108220200-108243400	Weak transcription	Colon Smooth Muscle	Colon
4	chr9:108220400-108252600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr9:108221000-108257000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr9:108221000-108257200	Weak transcription	Fetal Stomach	stomach
7	chr9:108221000-108266000	Weak transcription	NHEK	skin
8	chr9:108221000-108277200	Weak transcription	Left Ventricle	heart
9	chr9:108222200-108259000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr9:108222200-108277000	Weak transcription	Ovary	ovary
11	chr9:108222400-108242200	Weak transcription	Brain Anterior Caudate	brain
12	chr9:108222400-108259000	Weak transcription	HSMMtube	muscle
13	chr9:108222600-108311400	Weak transcription	Fetal Heart	heart
14	chr9:108223200-108252600	Weak transcription	K562	blood
15	chr9:108223600-108255200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr9:108224800-108244000	Weak transcription	Fetal Brain Male	brain
17	chr9:108225000-108249200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr9:108227400-108271600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr9:108227600-108278400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr9:108228000-108258800	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr9:108228200-108250200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr9:108228400-108252400	Weak transcription	Fetal Intestine Large	intestine
23	chr9:108228400-108257600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr9:108231400-108250200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr9:108231400-108257000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr9:108231600-108249800	Weak transcription	NHLF	lung
27	chr9:108231800-108247000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr9:108231800-108254400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr9:108231800-108296800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr9:108232000-108252200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr9:108232200-108246800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr9:108232400-108248400	Weak transcription	Primary B cells from cord blood	blood
33	chr9:108232400-108249400	Weak transcription	HMEC	breast
34	chr9:108232400-108249800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr9:108232600-108268800	Weak transcription	Fetal Brain Female	brain
36	chr9:108233000-108255000	Weak transcription	Dnd41	blood
37	chr9:108233400-108253000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr9:108233400-108253000	Weak transcription	Hela-S3	cervix
39	chr9:108233600-108243000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr9:108233600-108246600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr9:108233600-108247000	Weak transcription	NH-A	brain
42	chr9:108233600-108247400	Weak transcription	Osteobl	bone
43	chr9:108233600-108250200	Weak transcription	A549	lung
44	chr9:108233600-108250400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr9:108233600-108269200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr9:108233600-108272000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr9:108233600-108272400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr9:108233600-108277000	Weak transcription	Adipose Nuclei	Adipose
49	chr9:108233800-108249600	Weak transcription	Fetal Muscle Leg	muscle
50	chr9:108234800-108247000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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