Variant report

Variant	rs9851985
Chromosome Location	chr3:99575235-99575236
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:99574432..99577221-chr3:99578950..99581441,2	K562	blood:
2	chr3:99574024..99577676-chr3:99581622..99586745,5	K562	blood:
3	chr3:99575233..99577676-chr3:99581601..99584216,3	K562	blood:
4	chr3:99570458..99572667-chr3:99573247..99575806,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs12330310	0.83[AFR][1000 genomes]
rs13315221	0.83[AFR][1000 genomes]
rs13323384	0.83[AFR][1000 genomes]
rs13327351	1.00[AFR][1000 genomes]
rs13353487	0.83[AFR][1000 genomes]
rs16841800	0.83[AFR][1000 genomes]
rs16841824	0.83[AFR][1000 genomes]
rs16841836	0.83[AFR][1000 genomes]
rs16846956	1.00[AFR][1000 genomes]
rs28368726	0.83[AFR][1000 genomes]
rs28463921	0.83[AFR][1000 genomes]
rs28508384	0.83[AFR][1000 genomes]
rs28816814	0.83[AFR][1000 genomes]
rs9809706	0.83[AFR][1000 genomes]
rs9810553	0.83[AFR][1000 genomes]
rs9816232	0.83[AFR][1000 genomes]
rs9820799	0.83[AFR][1000 genomes]
rs9824229	0.83[AFR][1000 genomes]
rs9825382	0.83[AFR][1000 genomes]
rs9825938	0.83[AFR][1000 genomes]
rs9828782	0.83[AFR][1000 genomes]
rs9830038	1.00[AFR][1000 genomes]
rs9831706	1.00[AFR][1000 genomes]
rs9833005	1.00[AFR][1000 genomes]
rs9835048	0.83[AFR][1000 genomes]
rs9837028	0.83[AFR][1000 genomes]
rs9837204	0.83[AFR][1000 genomes]
rs9837555	0.83[AFR][1000 genomes]
rs9841053	0.83[AFR][1000 genomes]
rs9841758	0.83[AFR][1000 genomes]
rs9843919	0.83[AFR][1000 genomes]
rs9844578	0.83[AFR][1000 genomes]
rs9844595	0.83[AFR][1000 genomes]
rs9849336	0.83[AFR][1000 genomes]
rs9849373	0.83[AFR][1000 genomes]
rs9851406	0.83[AFR][1000 genomes]
rs9852857	0.83[AFR][1000 genomes]
rs9860986	0.83[AFR][1000 genomes]
rs9862370	0.83[AFR][1000 genomes]
rs9868303	0.83[AFR][1000 genomes]
rs9871500	0.83[AFR][1000 genomes]
rs9875301	0.83[AFR][1000 genomes]
rs9883235	0.83[AFR][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	nsv817478	chr3:99474086-99955548	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv916476	chr3:99478229-100124625	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99537200-99594400	Weak transcription	Esophagus	oesophagus
2	chr3:99538200-99584600	Weak transcription	Primary T cells from cord blood	blood
3	chr3:99559000-99578000	Weak transcription	HMEC	breast
4	chr3:99562200-99578000	Weak transcription	NHEK	skin
5	chr3:99562600-99578200	Weak transcription	Fetal Kidney	kidney
6	chr3:99562800-99580200	Weak transcription	Gastric	stomach
7	chr3:99563000-99577600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr3:99563200-99593600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr3:99564200-99577600	Weak transcription	Primary B cells from cord blood	blood
10	chr3:99565200-99585000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr3:99565400-99577600	Weak transcription	Fetal Heart	heart
12	chr3:99565600-99584800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:99565600-99589400	Weak transcription	K562	blood
14	chr3:99566000-99578400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:99567600-99576200	Weak transcription	Stomach Mucosa	stomach
16	chr3:99567800-99581600	Weak transcription	Spleen	Spleen
17	chr3:99568000-99578600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr3:99568000-99580000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:99568400-99576000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr3:99568600-99577600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr3:99569000-99589600	Weak transcription	Colonic Mucosa	Colon
22	chr3:99569800-99579200	Weak transcription	Right Ventricle	heart
23	chr3:99569800-99579400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr3:99569800-99580200	Weak transcription	Lung	lung
25	chr3:99570000-99575600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:99570000-99576000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr3:99570000-99576200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:99570000-99577600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr3:99570400-99579200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr3:99570400-99579200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr3:99570600-99581600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr3:99570800-99577400	Weak transcription	Fetal Intestine Large	intestine
33	chr3:99571000-99579200	Enhancers	Rectal Smooth Muscle	rectum
34	chr3:99571000-99579400	Enhancers	Colon Smooth Muscle	Colon
35	chr3:99572600-99576400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr3:99572600-99578000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:99572800-99577000	Strong transcription	Adipose Nuclei	Adipose
38	chr3:99573000-99580400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr3:99573200-99575400	Genic enhancers	Duodenum Smooth Muscle	Duodenum
40	chr3:99573200-99577400	Weak transcription	HSMMtube	muscle
41	chr3:99573200-99594000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr3:99573400-99575400	Strong transcription	Left Ventricle	heart
43	chr3:99573400-99589200	Genic enhancers	HepG2	liver
44	chr3:99573600-99584800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr3:99573800-99575400	Enhancers	Placenta Amnion	Placenta Amnion
46	chr3:99573800-99578000	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr3:99574000-99575600	Weak transcription	Osteobl	bone
48	chr3:99574000-99579400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr3:99574000-99584000	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr3:99574200-99578800	Weak transcription	Fetal Intestine Small	intestine

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