Variant report

Variant	rs72846676
Chromosome Location	chr2:127820083-127820084
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:127818793..127821567-chr2:127826127..127828276,2	MCF-7	breast:
2	chr2:127812772..127815710-chr2:127817588..127820461,3	K562	blood:
3	chr2:127818892..127820837-chr2:127828429..127830167,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136717	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11888878	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];0.84[ASN][1000 genomes]
rs12474412	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12476339	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12477924	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17014784	0.89[EUR][1000 genomes]
rs17014818	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17014851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17040070	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2071268	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2071270	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3768859	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3768860	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3820757	0.88[AMR][1000 genomes]
rs4662703	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
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	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67920725	0.88[EUR][1000 genomes]
rs72481904	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs727095	0.89[EUR][1000 genomes]
rs7570116	0.86[EUR][1000 genomes]
rs7573824	0.86[EUR][1000 genomes]
rs880436	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127802400-127822800	Weak transcription	Fetal Kidney	kidney
2	chr2:127805400-127822200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr2:127805800-127822200	Weak transcription	Small Intestine	intestine
4	chr2:127806400-127821800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:127807400-127821800	Weak transcription	Colon Smooth Muscle	Colon
6	chr2:127807800-127820800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:127807800-127821600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr2:127808200-127822000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr2:127808200-127822200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:127808400-127820200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr2:127808400-127820400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr2:127808400-127821200	Weak transcription	Esophagus	oesophagus
13	chr2:127808400-127822200	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr2:127808400-127825400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr2:127808600-127834200	Strong transcription	Primary T cells from cord blood	blood
16	chr2:127810200-127821800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr2:127810200-127822400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:127810600-127821400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:127810600-127821400	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr2:127810800-127822200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:127811000-127822000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
22	chr2:127811200-127822600	Strong transcription	Primary B cells from peripheral blood	blood
23	chr2:127811600-127821800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
24	chr2:127811600-127822000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr2:127812000-127822200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:127812200-127821800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr2:127812200-127821800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr2:127812600-127821200	Weak transcription	A549	lung
29	chr2:127812600-127821400	Strong transcription	Gastric	stomach
30	chr2:127812600-127821800	Weak transcription	Stomach Mucosa	stomach
31	chr2:127813400-127821600	Strong transcription	Fetal Intestine Small	intestine
32	chr2:127813400-127822000	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr2:127813600-127821600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:127813600-127822000	Strong transcription	Fetal Intestine Large	intestine
35	chr2:127813800-127821400	Strong transcription	HSMMtube	muscle
36	chr2:127813800-127821600	Strong transcription	Thymus	Thymus
37	chr2:127814000-127820600	Weak transcription	NHLF	lung
38	chr2:127814000-127821600	Strong transcription	Stomach Smooth Muscle	stomach
39	chr2:127814400-127821800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:127815200-127820200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:127815200-127850800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr2:127815400-127826600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr2:127815600-127820400	Genic enhancers	Placenta	Placenta
44	chr2:127816000-127820200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr2:127816000-127821600	Weak transcription	Right Ventricle	heart
46	chr2:127816000-127829000	Weak transcription	Aorta	Aorta
47	chr2:127816200-127821600	Strong transcription	Colonic Mucosa	Colon
48	chr2:127816600-127829600	Weak transcription	Brain Germinal Matrix	brain
49	chr2:127816800-127822000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:127816800-127822000	Strong transcription	Primary T cells fromperipheralblood	blood

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