Variant report

Variant	rs9985232
Chromosome Location	chr3:42698669-42698670
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:42698563-42698707	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:42629929..42632831-chr3:42695818..42698742,2	MCF-7	breast:

Variant related genes	Relation type
ZBTB47	TF binding region
ENSG00000230084	TF binding region
ENSG00000008324	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10154957	1.00[AMR][1000 genomes]
rs13320598	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13325536	1.00[AMR][1000 genomes]
rs28508060	1.00[AMR][1000 genomes]
rs28549046	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs580447	1.00[AMR][1000 genomes]
rs58273990	1.00[AMR][1000 genomes]
rs9812538	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9812673	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9822273	1.00[AMR][1000 genomes]
rs9832720	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9841926	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9853946	1.00[ASW][hapmap];1.00[AMR][1000 genomes]
rs9855071	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9869491	1.00[AMR][1000 genomes]
rs9876937	1.00[ASW][hapmap];1.00[AMR][1000 genomes]
rs9884030	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002944	chr3:42559762-42728909	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv1818302	chr3:42688867-42709062	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv876731	chr3:42690285-42711655	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42696800-42701200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr3:42697000-42699000	Enhancers	Esophagus	oesophagus
3	chr3:42697000-42699800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr3:42697000-42699800	Weak transcription	Aorta	Aorta
5	chr3:42697000-42700000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:42697000-42700600	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr3:42697000-42702400	Genic enhancers	Fetal Muscle Trunk	muscle
8	chr3:42697200-42699000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:42697200-42699600	Weak transcription	Liver	Liver
10	chr3:42697200-42699800	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr3:42697200-42701400	Genic enhancers	Fetal Muscle Leg	muscle
12	chr3:42697200-42703000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr3:42697200-42704600	Weak transcription	Primary B cells from cord blood	blood
14	chr3:42697400-42699000	Weak transcription	Fetal Brain Female	brain
15	chr3:42697400-42699400	Weak transcription	Fetal Heart	heart
16	chr3:42697400-42699600	Enhancers	Brain Cingulate Gyrus	brain
17	chr3:42697400-42699600	Weak transcription	Gastric	stomach
18	chr3:42697400-42699800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:42697400-42699800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:42697400-42699800	Weak transcription	Ovary	ovary
21	chr3:42697400-42700000	Enhancers	HepG2	liver
22	chr3:42697400-42700200	Enhancers	Brain Substantia Nigra	brain
23	chr3:42697400-42700400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr3:42697400-42700800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr3:42697400-42701200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr3:42697400-42702000	Weak transcription	Fetal Kidney	kidney
27	chr3:42697400-42703000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr3:42697400-42706800	Weak transcription	HMEC	breast
29	chr3:42697400-42708800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr3:42697400-42708800	Weak transcription	Fetal Lung	lung
31	chr3:42697600-42699200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr3:42697600-42699800	Enhancers	Brain Angular Gyrus	brain
33	chr3:42697600-42699800	Enhancers	Brain Anterior Caudate	brain
34	chr3:42697600-42699800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr3:42697600-42700000	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr3:42697600-42700000	Weak transcription	Right Atrium	heart
37	chr3:42697600-42703400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr3:42697600-42704600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr3:42697600-42704800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr3:42697600-42707000	Weak transcription	A549	lung
41	chr3:42697600-42708000	Weak transcription	Colonic Mucosa	Colon
42	chr3:42697600-42709800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr3:42697800-42698800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr3:42697800-42699200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr3:42697800-42699400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr3:42697800-42699400	Weak transcription	NHEK	skin
47	chr3:42697800-42699800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr3:42697800-42699800	Weak transcription	Adipose Nuclei	Adipose
49	chr3:42697800-42699800	Weak transcription	Brain Germinal Matrix	brain
50	chr3:42697800-42700000	Weak transcription	H1 Cell Line	embryonic stem cell

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