Variant report

Variant	rs72854506
Chromosome Location	chr6:28252497-28252498
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28245880..28256877-chr6:28299741..28307557,21	K562	blood:
2	chr6:28251868..28254160-chr6:28254261..28256025,2	MCF-7	breast:
3	chr6:28248465..28251025-chr6:28251931..28253617,2	MCF-7	breast:
4	chr6:28252167..28254655-chr6:28264060..28265912,2	MCF-7	breast:
5	chr6:28188896..28191056-chr6:28251556..28253787,2	K562	blood:
6	chr6:28252016..28254141-chr6:28279359..28281399,2	K562	blood:
7	chr6:28249255..28252885-chr6:28315781..28319284,4	K562	blood:
8	chr6:28252150..28254646-chr6:28303488..28305026,3	K562	blood:
9	chr6:28249727..28254264-chr6:28300327..28304071,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000235109	Chromatin interaction
ENSG00000189298	Chromatin interaction
ENSG00000137338	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1150710	1.00[ASN][1000 genomes]
rs11546572	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41269285	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41269287	1.00[ASN][1000 genomes]
rs41269289	1.00[ASN][1000 genomes]
rs41269291	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41270589	0.87[EUR][1000 genomes]
rs61744109	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62620226	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72844204	0.82[EUR][1000 genomes]
rs72844218	0.87[EUR][1000 genomes]
rs72844220	0.87[EUR][1000 genomes]
rs72846777	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72846788	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72846792	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72846797	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72846802	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72849204	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72849206	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72849210	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72849214	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72849222	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72850297	1.00[ASN][1000 genomes]
rs72850298	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72850299	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72850300	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72850302	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851105	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851135	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851138	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851139	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851156	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851158	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851160	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851161	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851168	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851173	0.88[EUR][1000 genomes]
rs72851179	0.88[EUR][1000 genomes]
rs72851182	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72854503	1.00[ASN][1000 genomes]
rs72854515	1.00[ASN][1000 genomes]
rs72854521	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72854522	1.00[ASN][1000 genomes]
rs72854525	1.00[ASN][1000 genomes]
rs72854527	1.00[ASN][1000 genomes]
rs72854531	1.00[ASN][1000 genomes]
rs72854533	1.00[ASN][1000 genomes]
rs7752415	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830620	chr6:28173997-28348033	Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28249800-28272200	Weak transcription	Spleen	Spleen
2	chr6:28250000-28253200	Weak transcription	Placenta	Placenta
3	chr6:28250000-28254800	Weak transcription	Primary B cells from cord blood	blood
4	chr6:28250000-28254800	Weak transcription	Pancreas	Pancrea
5	chr6:28250000-28254800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr6:28250000-28255000	Weak transcription	Esophagus	oesophagus
7	chr6:28250000-28258000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:28250000-28258600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr6:28250000-28277600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr6:28250000-28293800	Weak transcription	Gastric	stomach
11	chr6:28250200-28252800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr6:28250200-28273800	Weak transcription	Thymus	Thymus
13	chr6:28250400-28252800	Weak transcription	Fetal Brain Male	brain
14	chr6:28250400-28254000	Weak transcription	Brain Anterior Caudate	brain
15	chr6:28250400-28265600	Weak transcription	Primary T cells from cord blood	blood
16	chr6:28250400-28278600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr6:28250600-28253800	Weak transcription	HUVEC	blood vessel
18	chr6:28250600-28254800	Weak transcription	Fetal Thymus	thymus
19	chr6:28250600-28254800	Weak transcription	HMEC	breast
20	chr6:28250600-28254800	Weak transcription	NHDF-Ad	bronchial
21	chr6:28250600-28267000	Weak transcription	NHEK	skin
22	chr6:28250600-28270800	Weak transcription	Fetal Heart	heart
23	chr6:28250600-28280600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr6:28250800-28253400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:28250800-28256400	Strong transcription	A549	lung
26	chr6:28250800-28257600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:28250800-28270000	Weak transcription	Psoas Muscle	Psoas
28	chr6:28250800-28276800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr6:28251000-28252800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr6:28251000-28253000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr6:28251000-28253600	Strong transcription	Osteobl	bone
32	chr6:28251000-28254200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr6:28251000-28255200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:28251000-28255600	Strong transcription	Brain Substantia Nigra	brain
35	chr6:28251000-28258200	Strong transcription	Fetal Muscle Leg	muscle
36	chr6:28251000-28258600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr6:28251000-28258600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr6:28251000-28270800	Weak transcription	Colonic Mucosa	Colon
39	chr6:28251000-28273800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr6:28251000-28277200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr6:28251000-28278800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr6:28251200-28252600	Weak transcription	HSMMtube	muscle
43	chr6:28251200-28252800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:28251200-28252800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr6:28251200-28252800	Weak transcription	HepG2	liver
46	chr6:28251200-28253200	Weak transcription	Brain Hippocampus Middle	brain
47	chr6:28251200-28253200	Weak transcription	Hela-S3	cervix
48	chr6:28251200-28253400	Genic enhancers	Dnd41	blood
49	chr6:28251200-28254800	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr6:28251200-28254800	Weak transcription	Fetal Intestine Small	intestine

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