Variant report

Variant	rs61268760
Chromosome Location	chr15:43426596-43426597
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:43426566..43429300-chr15:43440939..43443897,2	K562	blood:
2	chr15:43412581..43417001-chr15:43422670..43429913,10	K562	blood:
3	chr15:43395932..43399418-chr15:43425897..43428585,4	K562	blood:
4	chr15:43411554..43416767-chr15:43424269..43426823,6	K562	blood:
5	chr15:43396979..43399675-chr15:43425245..43427228,2	MCF-7	breast:
6	chr15:43424880..43427064-chr15:51913097..51915072,2	MCF-7	breast:
7	chr15:43424687..43428034-chr15:43433131..43438698,7	K562	blood:

Variant related genes	Relation type
ENSG00000159459	Chromatin interaction
ENSG00000137842	Chromatin interaction
ENSG00000104093	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10048057	1.00[EUR][1000 genomes]
rs10083725	1.00[EUR][1000 genomes]
rs10152237	1.00[EUR][1000 genomes]
rs10220812	1.00[EUR][1000 genomes]
rs1042168	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10438267	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1078243	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11504654	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11504655	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12324094	1.00[EUR][1000 genomes]
rs12324436	1.00[EUR][1000 genomes]
rs12324573	1.00[EUR][1000 genomes]
rs1474199	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1520519	1.00[EUR][1000 genomes]
rs16957409	1.00[EUR][1000 genomes]
rs16957462	1.00[EUR][1000 genomes]
rs16957499	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16957502	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16957507	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1863601	1.00[EUR][1000 genomes]
rs2271964	1.00[EUR][1000 genomes]
rs2271965	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28444219	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28539201	1.00[EUR][1000 genomes]
rs3177296	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34222269	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35996841	1.00[AMR][1000 genomes]
rs4419035	1.00[EUR][1000 genomes]
rs505276	1.00[EUR][1000 genomes]
rs57287824	0.89[AFR][1000 genomes]
rs58059509	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59401274	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59900401	1.00[EUR][1000 genomes]
rs60435696	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60481556	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61343376	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61711558	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7162620	1.00[EUR][1000 genomes]
rs7162971	1.00[EUR][1000 genomes]
rs7171797	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7176183	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7182685	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7183024	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8030850	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8035881	1.00[EUR][1000 genomes]
rs8039342	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8040769	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8040960	1.00[EUR][1000 genomes]
rs8041312	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9806236	1.00[EUR][1000 genomes]
rs9806629	1.00[EUR][1000 genomes]
rs9972314	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9972367	1.00[EUR][1000 genomes]
rs999025	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525461	chr15:43062548-43482127	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv1044522	chr15:43115348-43658417	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv515876	chr15:43116906-43445305	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv569240	chr15:43201109-43445305	Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv569241	chr15:43201109-43522922	Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv569242	chr15:43210030-43445305	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv904136	chr15:43257475-43482127	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv904139	chr15:43268970-43482127	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised 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	28 gene(s)	inside rSNPs	diseases
9	nsv1044508	chr15:43270637-43658417	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
10	nsv904144	chr15:43276345-43482127	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
11	esv1802035	chr15:43370916-43487742	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43424800-43426600	Active TSS	K562	blood
2	chr15:43424800-43426800	Active TSS	A549	lung
3	chr15:43425000-43426600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr15:43425000-43426600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr15:43425000-43426600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr15:43425000-43426600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr15:43425000-43426600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr15:43425000-43426600	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr15:43425000-43426600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr15:43425000-43426600	Active TSS	Brain Substantia Nigra	brain
11	chr15:43425000-43426600	Active TSS	Colonic Mucosa	Colon
12	chr15:43425000-43426600	Active TSS	Right Atrium	heart
13	chr15:43425000-43426600	Bivalent/Poised TSS	HepG2	liver
14	chr15:43425000-43427000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr15:43425000-43427000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr15:43425000-43427000	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr15:43425000-43427000	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr15:43425000-43427000	Flanking Active TSS	Dnd41	blood
19	chr15:43425000-43427200	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr15:43425000-43427200	Active TSS	Fetal Intestine Large	intestine
21	chr15:43425200-43426600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr15:43425200-43426600	Active TSS	Brain Anterior Caudate	brain
23	chr15:43425200-43426600	Active TSS	Gastric	stomach
24	chr15:43425200-43426600	Active TSS	Sigmoid Colon	Sigmoid Colon
25	chr15:43425200-43426600	Active TSS	Stomach Mucosa	stomach
26	chr15:43425200-43426600	Active TSS	Spleen	Spleen
27	chr15:43425200-43426800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr15:43425200-43426800	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr15:43425200-43426800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr15:43425200-43426800	Active TSS	Aorta	Aorta
31	chr15:43425200-43426800	Active TSS	Fetal Kidney	kidney
32	chr15:43425200-43426800	Active TSS	Left Ventricle	heart
33	chr15:43425200-43426800	Active TSS	Lung	lung
34	chr15:43425200-43426800	Active TSS	Psoas Muscle	Psoas
35	chr15:43425200-43426800	Active TSS	GM12878-XiMat	blood
36	chr15:43425400-43426600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr15:43425400-43426600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr15:43425400-43426600	Active TSS	Esophagus	oesophagus
39	chr15:43425400-43426600	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr15:43425400-43426600	Active TSS	Small Intestine	intestine
41	chr15:43425400-43426800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr15:43425400-43426800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
43	chr15:43425400-43426800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr15:43425400-43426800	Active TSS	Colon Smooth Muscle	Colon
45	chr15:43425400-43427000	Active TSS	Rectal Smooth Muscle	rectum
46	chr15:43425400-43427200	Active TSS	Duodenum Mucosa	Duodenum
47	chr15:43425600-43426600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr15:43425600-43426600	Active TSS	Fetal Brain Female	brain
49	chr15:43425600-43426800	Bivalent/Poised TSS	Fetal Lung	lung
50	chr15:43425600-43427000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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