Variant report

Variant	rs72907269
Chromosome Location	chr18:44676389-44676390
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:44675848..44678361-chr18:44699497..44704011,6	MCF-7	breast:
2	chr18:44675372..44679287-chr18:44700113..44704114,10	MCF-7	breast:
3	chr18:44660900..44663835-chr18:44675479..44677959,3	MCF-7	breast:
4	chr18:44663118..44666144-chr18:44673724..44676472,4	K562	blood:

Variant related genes	Relation type
ENSG00000267800	Chromatin interaction
ENSG00000134049	Chromatin interaction
ENSG00000267228	Chromatin interaction

Extended variants
information (count: 131 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs55633240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55650860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55682632	1.00[AFR][1000 genomes]
rs55687418	1.00[ASN][1000 genomes]
rs55698938	1.00[ASN][1000 genomes]
rs55813572	1.00[ASN][1000 genomes]
rs55840418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55877804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55892143	1.00[ASN][1000 genomes]
rs55916944	1.00[AFR][1000 genomes]
rs55929919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56003577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56009869	1.00[AFR][1000 genomes]
rs56077098	1.00[ASN][1000 genomes]
rs56101223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56109213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56109704	1.00[ASN][1000 genomes]
rs56119924	1.00[AMR][1000 genomes]
rs56132373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56142565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56169983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56272937	1.00[AFR][1000 genomes]
rs56297904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56299848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58684150	1.00[ASN][1000 genomes]
rs61743415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61743594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs66485937	1.00[ASN][1000 genomes]
rs66914705	1.00[ASN][1000 genomes]
rs67119810	1.00[ASN][1000 genomes]
rs67123015	1.00[ASN][1000 genomes]
rs67514853	1.00[ASN][1000 genomes]
rs67822267	1.00[ASN][1000 genomes]
rs72903239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72903243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72903245	1.00[AMR][1000 genomes]
rs72903247	1.00[AMR][1000 genomes]
rs72903249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72903269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72903273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72903277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72903280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72903291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72903295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72905420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72905424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72905425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72905429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72905435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72905443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72905444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72905446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72905450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72905454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72905460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72905499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72907220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72907225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72907230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72907240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72908572	1.00[ASN][1000 genomes]
rs72908575	1.00[ASN][1000 genomes]
rs72908588	1.00[ASN][1000 genomes]
rs72909204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72910504	1.00[ASN][1000 genomes]
rs72910505	1.00[ASN][1000 genomes]
rs72910507	1.00[ASN][1000 genomes]
rs72910512	1.00[ASN][1000 genomes]
rs72910513	1.00[ASN][1000 genomes]
rs72910516	1.00[ASN][1000 genomes]
rs72910538	1.00[ASN][1000 genomes]
rs72910544	1.00[ASN][1000 genomes]
rs72910547	1.00[ASN][1000 genomes]
rs72910552	1.00[ASN][1000 genomes]
rs72910554	1.00[ASN][1000 genomes]
rs72911116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72911123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72911203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72911205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72911207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72913049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72913052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72913066	1.00[AMR][1000 genomes]
rs72913087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72913164	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72913166	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72913186	1.00[AFR][1000 genomes]
rs72913187	1.00[AFR][1000 genomes]
rs72914811	1.00[AFR][1000 genomes]
rs72914843	1.00[AFR][1000 genomes]
rs72915064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72915071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72917106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72917111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72917116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72917122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72917167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72917200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72917202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72919218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72919221	1.00[AFR][1000 genomes]
rs72919226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72919229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72919238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72919241	1.00[AFR][1000 genomes]
rs72919260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72919265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72919273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72919278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72919289	1.00[AMR][1000 genomes]
rs72919290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72919296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72921303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72921305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72921319	1.00[AFR][1000 genomes];1.00[AMR][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	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv833640	chr18:44552276-44714872	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv909612	chr18:44560875-44681485	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv576819	chr18:44602249-44677627	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv909613	chr18:44644530-44690107	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 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	chr18:44675000-44678000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr18:44675200-44677200	Active TSS	K562	blood
3	chr18:44675400-44676400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr18:44675400-44676400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr18:44675400-44676400	Flanking Active TSS	Dnd41	blood
6	chr18:44675400-44677400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr18:44675400-44677400	Active TSS	A549	lung
8	chr18:44675400-44677600	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr18:44675400-44677600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr18:44675400-44678200	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr18:44675600-44676400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr18:44675600-44676400	Flanking Active TSS	Colon Smooth Muscle	Colon
13	chr18:44675600-44676400	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr18:44675600-44676400	Flanking Active TSS	Hela-S3	cervix
15	chr18:44675600-44676600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr18:44675600-44676600	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr18:44675600-44677200	Active TSS	NHLF	lung
18	chr18:44675600-44677400	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr18:44675600-44677400	Active TSS	NHDF-Ad	bronchial
20	chr18:44675600-44677600	Active TSS	H1 Cell Line	embryonic stem cell
21	chr18:44675600-44677600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr18:44675600-44677600	Active TSS	Brain Angular Gyrus	brain
23	chr18:44675600-44677600	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr18:44675800-44676400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr18:44675800-44676400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr18:44675800-44676400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr18:44675800-44676400	Flanking Active TSS	Colonic Mucosa	Colon
28	chr18:44675800-44676400	Flanking Active TSS	Fetal Muscle Leg	muscle
29	chr18:44675800-44676400	Flanking Active TSS	Placenta	Placenta
30	chr18:44675800-44676400	Flanking Active TSS	Fetal Thymus	thymus
31	chr18:44675800-44676400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr18:44675800-44676400	Flanking Active TSS	Right Ventricle	heart
33	chr18:44675800-44676400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr18:44675800-44676400	Flanking Active TSS	Stomach Mucosa	stomach
35	chr18:44675800-44676400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr18:44675800-44676600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
37	chr18:44675800-44676600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr18:44675800-44676600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr18:44675800-44676600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr18:44675800-44676600	Flanking Active TSS	Liver	Liver
41	chr18:44675800-44676600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr18:44675800-44676600	Flanking Active TSS	HUVEC	blood vessel
43	chr18:44675800-44676800	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr18:44675800-44677000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr18:44675800-44677400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr18:44675800-44677400	Active TSS	Fetal Kidney	kidney
47	chr18:44675800-44677600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr18:44675800-44677600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr18:44675800-44677600	Active TSS	H9 Cell Line	embryonic stem cell
50	chr18:44675800-44677600	Active TSS	iPS-15b Cell Line	embryonic stem cell

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