Variant report

Variant	rs13005731
Chromosome Location	chr2:64341325-64341326
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:64341051..64343423-chr2:64345002..64348467,3	MCF-7	breast:
2	chr2:64339816..64342489-chr2:64352570..64354262,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12373654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13012307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34701418	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs34902109	1.00[AFR][1000 genomes]
rs35292272	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757803	chr2:64253005-64539556	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv2759055	chr2:64253005-64539556	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	27 gene(s)	inside rSNPs	diseases
5	nsv428396	chr2:64253005-64539556	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv34698	chr2:64312142-64521366	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	esv34955	chr2:64312182-64521290	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv834243	chr2:64316514-64476935	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv1006553	chr2:64339907-64764771	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64313200-64341800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:64323400-64341400	Weak transcription	Aorta	Aorta
3	chr2:64323600-64341800	Weak transcription	Right Ventricle	heart
4	chr2:64323600-64364400	Weak transcription	Fetal Brain Male	brain
5	chr2:64323800-64341600	Weak transcription	Gastric	stomach
6	chr2:64323800-64341600	Weak transcription	K562	blood
7	chr2:64324000-64341600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr2:64324400-64341600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:64324400-64344800	Weak transcription	HSMMtube	muscle
10	chr2:64325000-64341600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:64329000-64342800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:64333400-64341600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:64333600-64343200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:64333800-64341400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:64334000-64349200	Weak transcription	Fetal Kidney	kidney
16	chr2:64334200-64343200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr2:64334400-64350200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr2:64334800-64341400	Weak transcription	Primary B cells from cord blood	blood
19	chr2:64334800-64346600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr2:64335000-64343200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr2:64335000-64365200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:64335200-64341600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr2:64335200-64348000	Weak transcription	Fetal Muscle Leg	muscle
24	chr2:64335200-64348200	Weak transcription	Placenta	Placenta
25	chr2:64335400-64341600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:64335600-64341600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr2:64335600-64341600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:64335600-64343400	Weak transcription	Brain Germinal Matrix	brain
29	chr2:64336000-64341400	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr2:64336000-64341400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:64336000-64344400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr2:64336200-64341600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr2:64336400-64341400	Weak transcription	Primary B cells from peripheral blood	blood
34	chr2:64336400-64341400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr2:64336400-64341400	Weak transcription	Thymus	Thymus
36	chr2:64336400-64341600	Weak transcription	Ovary	ovary
37	chr2:64336400-64341600	Weak transcription	Spleen	Spleen
38	chr2:64336400-64341800	Weak transcription	Left Ventricle	heart
39	chr2:64336400-64341800	Weak transcription	Psoas Muscle	Psoas
40	chr2:64336400-64344400	Enhancers	Primary T cells from cord blood	blood
41	chr2:64336400-64351400	Weak transcription	Fetal Stomach	stomach
42	chr2:64336400-64353400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:64336600-64341600	Weak transcription	Fetal Thymus	thymus
44	chr2:64336600-64343400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr2:64336800-64341600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr2:64336800-64341600	Weak transcription	Colonic Mucosa	Colon
47	chr2:64338200-64341600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:64338200-64344000	Enhancers	Colon Smooth Muscle	Colon
49	chr2:64338200-64344200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr2:64338400-64341400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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