Variant report

Variant	rs3007326
Chromosome Location	chr1:246917797-246917798
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:245316024..245316530-chr1:246916951..246917830,2	K562	blood:
2	chr1:246852160..246853430-chr1:246916966..246917900,5	K562	blood:
3	chr1:246852518..246853416-chr1:246916861..246918256,7	MCF-7	breast:
4	chr1:246810150..246810952-chr1:246916713..246917868,5	MCF-7	breast:
5	chr1:246660320..246661257-chr1:246916886..246917830,4	K562	blood:
6	chr1:246852892..246854672-chr1:246916760..246919420,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235021	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10732299	1.00[AMR][1000 genomes]
rs10924822	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12040914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12069175	1.00[AMR][1000 genomes]
rs12071299	1.00[AMR][1000 genomes]
rs1691257	1.00[AMR][1000 genomes]
rs1779973	1.00[AMR][1000 genomes]
rs1779976	1.00[AMR][1000 genomes]
rs2800223	1.00[AMR][1000 genomes]
rs2996552	1.00[AMR][1000 genomes]
rs3007320	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3007321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3007325	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3007327	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3122533	1.00[AMR][1000 genomes]
rs4244625	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4244626	0.81[LWK][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4244629	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4244631	0.87[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs4511163	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4532864	0.86[LWK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4926452	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4926463	1.00[AMR][1000 genomes]
rs6426335	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6663093	1.00[AMR][1000 genomes]
rs6696798	1.00[AMR][1000 genomes]
rs7416659	1.00[AMR][1000 genomes]
rs923972	1.00[AMR][1000 genomes]
rs9426266	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9426274	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949571	chr1:246688635-247240863	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv873421	chr1:246818634-247044692	Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv2762192	chr1:246823857-247069232	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1006271	chr1:246832606-247276182	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv535416	chr1:246832606-247276182	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer 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	52 gene(s)	inside rSNPs	diseases
6	nsv430413	chr1:246845971-246975015	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS 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	16 gene(s)	inside rSNPs	diseases
7	nsv873422	chr1:246854862-247002638	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1011346	chr1:246868799-247133898	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv870294	chr1:246877043-246927940	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1006262	chr1:246892826-246964775	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
11	nsv523531	chr1:246893948-246967899	Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS 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	14 gene(s)	inside rSNPs	diseases
12	nsv999756	chr1:246894542-246969660	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv1009436	chr1:246910373-246965832	Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246888400-246946400	Weak transcription	Small Intestine	intestine
2	chr1:246888600-246945600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr1:246889000-246929000	Weak transcription	Stomach Mucosa	stomach
4	chr1:246892600-246924400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:246894600-246923800	Weak transcription	Pancreas	Pancrea
6	chr1:246895000-246942200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:246895400-246938600	Weak transcription	Fetal Heart	heart
8	chr1:246901200-246924000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:246902800-246923200	Weak transcription	Fetal Brain Male	brain
10	chr1:246902800-246923800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:246902800-246952800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:246904600-246942800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr1:246905000-246922200	Weak transcription	Brain Germinal Matrix	brain
14	chr1:246905000-246922200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr1:246905000-246923600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:246905000-246923800	Weak transcription	Thymus	Thymus
17	chr1:246905000-246924000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:246905000-246945800	Weak transcription	Psoas Muscle	Psoas
19	chr1:246905600-246923400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr1:246905600-246923800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr1:246905800-246923800	Weak transcription	Colonic Mucosa	Colon
22	chr1:246905800-246931600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:246906000-246923800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:246906800-246923000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr1:246906800-246923800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr1:246907000-246923600	Weak transcription	Aorta	Aorta
27	chr1:246907400-246922200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr1:246908600-246923400	Weak transcription	NH-A	brain
29	chr1:246908600-246923800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:246908800-246922200	Weak transcription	Brain Substantia Nigra	brain
31	chr1:246908800-246922600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr1:246908800-246922600	Weak transcription	NHLF	lung
33	chr1:246908800-246923000	Weak transcription	HUVEC	blood vessel
34	chr1:246908800-246923600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:246908800-246923600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr1:246908800-246923800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:246909000-246918600	Weak transcription	HSMM	muscle
38	chr1:246909000-246922400	Weak transcription	Fetal Kidney	kidney
39	chr1:246909000-246922400	Weak transcription	NHDF-Ad	bronchial
40	chr1:246909000-246922600	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr1:246909000-246922600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr1:246909000-246923600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr1:246909000-246923600	Weak transcription	Brain Hippocampus Middle	brain
44	chr1:246909000-246923800	Weak transcription	Brain Angular Gyrus	brain
45	chr1:246909200-246922400	Weak transcription	Brain Anterior Caudate	brain
46	chr1:246911200-246918800	Weak transcription	Primary hematopoietic stem cells	blood
47	chr1:246911800-246923400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr1:246911800-246925000	Weak transcription	Fetal Lung	lung
49	chr1:246912000-246918600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:246912000-246921200	Weak transcription	Dnd41	blood

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