Variant report

Variant	rs3760186
Chromosome Location	chr2:65345858-65345859
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:65314551..65318169-chr2:65345114..65346731,3	MCF-7	breast:
2	chr2:65343713..65347042-chr2:65350544..65353825,5	K562	blood:
3	chr2:65343918..65347042-chr2:65350544..65353825,4	K562	blood:
4	chr2:65344558..65346644-chr2:65454832..65456996,2	K562	blood:
5	chr2:65341612..65346897-chr2:65355852..65359304,8	MCF-7	breast:
6	chr2:65339657..65343534-chr2:65343838..65349203,6	K562	blood:
7	chr2:65338853..65346005-chr2:65354140..65360589,10	K562	blood:

Variant related genes	Relation type
ENSG00000138071	Chromatin interaction
ENSG00000138069	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs4646353	0.89[ASN][1000 genomes]
rs4646360	0.93[ASN][1000 genomes]
rs4646361	0.93[ASN][1000 genomes]
rs4646362	0.93[ASN][1000 genomes]
rs4646363	0.93[ASN][1000 genomes]
rs4646364	0.93[ASN][1000 genomes]
rs4646366	0.93[ASN][1000 genomes]
rs4646373	0.89[ASN][1000 genomes]
rs4646374	0.89[ASN][1000 genomes]
rs4646375	0.89[ASN][1000 genomes]
rs4646378	0.89[ASN][1000 genomes]
rs4646382	0.89[ASN][1000 genomes]
rs4646384	0.89[ASN][1000 genomes]
rs56046764	0.89[ASN][1000 genomes]
rs58874056	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs58990997	0.83[ASN][1000 genomes]
rs7210045	0.93[ASN][1000 genomes]
rs73298588	0.93[ASN][1000 genomes]
rs73298590	0.93[ASN][1000 genomes]
rs73300565	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73978975	0.89[ASN][1000 genomes]
rs8065788	0.93[ASN][1000 genomes]
rs8066187	0.93[ASN][1000 genomes]
rs8068641	0.93[ASN][1000 genomes]
rs8076828	0.89[ASN][1000 genomes]
rs9902188	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010771	chr2:64936511-65710447	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv535770	chr2:64936511-65710447	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
3	nsv1009617	chr2:65156289-65551511	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv535772	chr2:65156289-65551511	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv834246	chr2:65209010-65404071	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:65316000-65348600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:65320200-65352600	Weak transcription	Esophagus	oesophagus
3	chr2:65324800-65353800	Weak transcription	Fetal Kidney	kidney
4	chr2:65326800-65352800	Weak transcription	Aorta	Aorta
5	chr2:65329200-65353400	Weak transcription	NHLF	lung
6	chr2:65330000-65348200	Weak transcription	Brain Germinal Matrix	brain
7	chr2:65330200-65353600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:65330400-65348000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:65330400-65348400	Weak transcription	Brain Angular Gyrus	brain
10	chr2:65330800-65351600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr2:65331000-65351400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:65331000-65352200	Weak transcription	HUVEC	blood vessel
13	chr2:65331400-65353600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:65331600-65348000	Weak transcription	Colonic Mucosa	Colon
15	chr2:65331600-65348200	Weak transcription	Fetal Lung	lung
16	chr2:65331600-65351200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:65331600-65354400	Weak transcription	HSMM	muscle
18	chr2:65331800-65348000	Weak transcription	K562	blood
19	chr2:65331800-65352600	Weak transcription	HMEC	breast
20	chr2:65331800-65352800	Weak transcription	Hela-S3	cervix
21	chr2:65332000-65348200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:65332000-65351400	Weak transcription	NHDF-Ad	bronchial
23	chr2:65332000-65353200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr2:65332200-65351200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr2:65332200-65352200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr2:65332400-65348400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:65332600-65352600	Weak transcription	Fetal Muscle Trunk	muscle
28	chr2:65335000-65346200	Weak transcription	Spleen	Spleen
29	chr2:65335000-65348000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:65335000-65351600	Weak transcription	Primary B cells from cord blood	blood
31	chr2:65335200-65347200	Weak transcription	Primary T cells from cord blood	blood
32	chr2:65335200-65347800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:65335200-65348000	Weak transcription	Dnd41	blood
34	chr2:65335200-65351600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:65335200-65352200	Weak transcription	NH-A	brain
36	chr2:65335400-65348800	Weak transcription	Osteobl	bone
37	chr2:65335400-65355600	Weak transcription	Thymus	Thymus
38	chr2:65335800-65348200	Weak transcription	Placenta	Placenta
39	chr2:65338000-65351200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:65338400-65351200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:65338400-65353800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:65339000-65352800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:65339600-65346400	Weak transcription	Primary B cells from peripheral blood	blood
44	chr2:65339600-65346600	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr2:65339800-65353800	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr2:65340200-65352000	Weak transcription	GM12878-XiMat	blood
47	chr2:65340400-65348000	Weak transcription	Duodenum Mucosa	Duodenum
48	chr2:65340400-65348200	Weak transcription	Stomach Mucosa	stomach
49	chr2:65340600-65348000	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr2:65340600-65348200	Weak transcription	Rectal Smooth Muscle	rectum

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