Variant report

Variant	rs9876642
Chromosome Location	chr3:99980711-99980712
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:99949873..99952831-chr3:99980066..99981821,2	K562	blood:
2	chr3:99979418..99981870-chr3:100118340..100121144,2	K562	blood:
3	chr3:99534048..99538188-chr3:99977608..99981959,7	K562	blood:
4	chr3:99591850..99594536-chr3:99980465..99982700,2	K562	blood:
5	chr3:99571584..99573287-chr3:99980510..99983253,2	K562	blood:
6	chr3:99534888..99538188-chr3:99978029..99981295,5	K562	blood:
7	chr3:99534190..99537845-chr3:99978822..99982000,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000206535	Chromatin interaction
ENSG00000184220	Chromatin interaction
ENSG00000154174	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13326691	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16841960	1.00[AMR][1000 genomes]
rs6762731	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9867916	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9871433	1.00[YRI][hapmap];0.86[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	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
2	nsv1003924	chr3:99933762-100112690	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99978800-99980800	Active TSS	H1 Cell Line	embryonic stem cell
2	chr3:99978800-99981000	Active TSS	Right Atrium	heart
3	chr3:99978800-99981800	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr3:99978800-99982400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr3:99978800-99982400	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr3:99979000-99980800	Active TSS	H9 Cell Line	embryonic stem cell
7	chr3:99979000-99980800	Active TSS	Ovary	ovary
8	chr3:99979000-99980800	Bivalent/Poised TSS	HepG2	liver
9	chr3:99979000-99981000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr3:99979000-99981000	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr3:99979000-99981000	Active TSS	Aorta	Aorta
12	chr3:99979000-99981000	Active TSS	Colonic Mucosa	Colon
13	chr3:99979000-99981000	Active TSS	Right Ventricle	heart
14	chr3:99979000-99981000	Active TSS	Thymus	Thymus
15	chr3:99979000-99981200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr3:99979000-99981200	Active TSS	Psoas Muscle	Psoas
17	chr3:99979000-99982400	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr3:99979200-99980800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr3:99979200-99980800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:99979200-99980800	Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr3:99979200-99980800	Active TSS	A549	lung
22	chr3:99979200-99981000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr3:99979200-99981000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr3:99979200-99981000	Active TSS	Fetal Intestine Large	intestine
25	chr3:99979200-99981000	Active TSS	Fetal Muscle Trunk	muscle
26	chr3:99979200-99981000	Active TSS	Left Ventricle	heart
27	chr3:99979200-99981200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:99979200-99982200	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr3:99979200-99982400	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr3:99979200-99982800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:99979400-99980800	Active TSS	HMEC	breast
32	chr3:99979400-99980800	Active TSS	HSMM	muscle
33	chr3:99979400-99981000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr3:99979400-99981000	Active TSS	HSMMtube	muscle
35	chr3:99979400-99981200	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr3:99979400-99981400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr3:99979400-99981600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr3:99979600-99981200	Active TSS	NHDF-Ad	bronchial
39	chr3:99979600-99981400	Active TSS	NHLF	lung
40	chr3:99979600-99982600	Active TSS	K562	blood
41	chr3:99980000-99980800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr3:99980000-99980800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
43	chr3:99980000-99981000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr3:99980000-99981000	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr3:99980000-99981000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
46	chr3:99980000-99981000	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr3:99980000-99981000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr3:99980000-99981000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr3:99980200-99980800	Flanking Active TSS	Primary B cells from peripheral blood	blood
50	chr3:99980200-99980800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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