Variant report

Variant	rs3768860
Chromosome Location	chr2:127825030-127825031
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr2:127825008-127826098	K562	blood:	n/a	n/a
2	ZNF263	chr2:127824854-127825909	HEK293-T-REx	kidney:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:127823166..127825424-chr2:127856557..127859034,2	MCF-7	breast:
2	chr2:127824897..127826990-chr2:127827722..127829890,2	K562	blood:
3	chr2:127819816..127822749-chr2:127823381..127826394,3	K562	blood:
4	chr2:127812073..127814969-chr2:127823629..127825354,2	K562	blood:
5	chr2:127820803..127824621-chr2:127824894..127830047,6	K562	blood:
6	chr2:127822672..127825565-chr2:127830790..127832845,2	K562	blood:

No data

Variant related genes	Relation type
BIN1	TF binding region
ENSG00000136717	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1060743	0.80[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs11888878	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs11893989	0.89[EUR][1000 genomes]
rs11902275	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12465042	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12474412	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12476339	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12477924	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17014784	0.89[EUR][1000 genomes]
rs17014818	1.00[CEU][hapmap];0.81[CHB][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17014851	1.00[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17040070	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2071268	1.00[CEU][hapmap];0.85[CHB][hapmap];0.80[JPT][hapmap];0.83[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2071270	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3768859	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3820757	0.82[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4662703	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4663089	1.00[CEU][hapmap]
rs4663090	0.89[EUR][1000 genomes]
rs55819047	0.89[EUR][1000 genomes]
rs55999604	0.89[EUR][1000 genomes]
rs56408880	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60022219	0.89[EUR][1000 genomes]
rs66507470	0.84[EUR][1000 genomes]
rs6745677	1.00[CEU][hapmap];0.81[CHB][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67920725	0.88[EUR][1000 genomes]
rs72481904	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs727095	0.89[EUR][1000 genomes]
rs72846676	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs752780	0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs753431	0.84[JPT][hapmap];0.89[ASN][1000 genomes]
rs7570116	0.86[EUR][1000 genomes]
rs7573824	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs880436	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999422	chr2:127464647-127956543	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1004930	chr2:127477369-127938234	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv459230	chr2:127771006-127844735	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription 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	6 gene(s)	inside rSNPs	diseases
4	nsv583032	chr2:127771006-127844735	Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1003730	chr2:127794288-127860830	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv1003461	chr2:127794288-127862257	Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv516759	chr2:127796666-127859441	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv1000994	chr2:127797089-127860830	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	esv1825024	chr2:127798138-127864285	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv459241	chr2:127800981-127868435	Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv583033	chr2:127800981-127868435	Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv875011	chr2:127800981-127868435	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv875012	chr2:127800981-127895573	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv1002673	chr2:127801964-127860830	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	nsv1010577	chr2:127801964-127862257	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv1011224	chr2:127802375-127860830	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	nsv1003887	chr2:127802375-127862257	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
18	nsv1009309	chr2:127802730-127862257	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
19	nsv1014290	chr2:127805366-127860830	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
20	nsv1010084	chr2:127805366-127862257	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
21	nsv997855	chr2:127806424-127857946	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
22	nsv1001673	chr2:127810478-127858634	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
23	nsv1002124	chr2:127810478-127860830	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
24	nsv1005423	chr2:127814781-127857751	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
25	nsv997847	chr2:127814781-127858634	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
26	nsv1014118	chr2:127814781-127860830	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
27	nsv583034	chr2:127821207-127828394	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
28	nsv999224	chr2:127821207-127860830	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127808400-127825400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr2:127808600-127834200	Strong transcription	Primary T cells from cord blood	blood
3	chr2:127815200-127850800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:127815400-127826600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:127816000-127829000	Weak transcription	Aorta	Aorta
6	chr2:127816600-127829600	Weak transcription	Brain Germinal Matrix	brain
7	chr2:127816800-127831200	Weak transcription	Fetal Brain Female	brain
8	chr2:127817200-127833800	Genic enhancers	Spleen	Spleen
9	chr2:127818400-127844400	Genic enhancers	Fetal Muscle Leg	muscle
10	chr2:127819600-127825600	Weak transcription	Ovary	ovary
11	chr2:127821000-127827200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:127821200-127838600	Genic enhancers	Fetal Muscle Trunk	muscle
13	chr2:127821400-127825200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr2:127821400-127825400	Weak transcription	Pancreas	Pancrea
15	chr2:127821400-127825800	Genic enhancers	Brain Hippocampus Middle	brain
16	chr2:127821600-127826000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr2:127821800-127825600	Enhancers	NHLF	lung
18	chr2:127821800-127826400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr2:127821800-127829200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:127821800-127830000	Genic enhancers	Brain Substantia Nigra	brain
21	chr2:127821800-127830200	Genic enhancers	Brain Inferior Temporal Lobe	brain
22	chr2:127822000-127826400	Genic enhancers	Primary T cells fromperipheralblood	blood
23	chr2:127822000-127830200	Genic enhancers	Brain Cingulate Gyrus	brain
24	chr2:127822200-127829600	Genic enhancers	Brain Anterior Caudate	brain
25	chr2:127822400-127825800	Enhancers	HSMM	muscle
26	chr2:127822400-127826400	Enhancers	Adipose Nuclei	Adipose
27	chr2:127822800-127836600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:127822800-127836800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:127823000-127825400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:127823000-127825400	Weak transcription	Fetal Heart	heart
31	chr2:127823000-127825600	Strong transcription	Primary B cells from peripheral blood	blood
32	chr2:127823000-127825800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:127823000-127829800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr2:127823000-127832800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr2:127823200-127825200	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr2:127823200-127825200	Weak transcription	Liver	Liver
37	chr2:127823200-127825200	Weak transcription	Colon Smooth Muscle	Colon
38	chr2:127823200-127825400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr2:127823200-127825600	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr2:127823200-127825600	Genic enhancers	Fetal Lung	lung
41	chr2:127823200-127825600	Genic enhancers	HSMMtube	muscle
42	chr2:127823200-127826000	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr2:127823200-127826800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:127823200-127830600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr2:127823200-127831800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr2:127823200-127832600	Weak transcription	GM12878-XiMat	blood
47	chr2:127823200-127838200	Weak transcription	Left Ventricle	heart
48	chr2:127823400-127825200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:127823400-127825200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr2:127823400-127825400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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