Variant report

Variant	rs9481867
Chromosome Location	chr6:119216982-119216983
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr6:119216803-119217250	MCF10A-Er-Src	breast:	n/a	n/a
2	MYC	chr6:119216670-119217225	MCF10A-Er-Src	breast:	n/a	n/a
3	CHD1	chr6:119214496-119217944	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr6:119214790-119217179	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr6:119216972-119217037	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:119214552..119219906-chr6:119253918..119257622,8	MCF-7	breast:
2	chr6:119216722..119218492-chr6:119251658..119253168,2	K562	blood:
3	chr6:119213105..119220728-chr6:119253299..119257962,22	K562	blood:
4	chr6:119213036..119217484-chr6:119254311..119257675,9	MCF-7	breast:
5	chr6:119213694..119219544-chr6:119251621..119258172,21	K562	blood:
6	chr6:119030681..119033583-chr6:119216548..119219009,2	K562	blood:
7	chr6:119215906..119219234-chr6:119443291..119446175,3	K562	blood:
8	chr5:140698166..140700662-chr6:119215254..119217886,2	MCF-7	breast:
9	chr6:119215924..119218586-chr6:119236069..119238504,2	K562	blood:
10	chr6:118997357..119000224-chr6:119215620..119217691,2	K562	blood:
11	chr6:119027193..119028788-chr6:119215908..119217917,2	K562	blood:
12	chr6:119029203..119032181-chr6:119214720..119218048,3	K562	blood:
13	chr6:119215862..119217383-chr6:119670691..119672707,2	K562	blood:
14	chr6:119216161..119219506-chr6:119398191..119401599,4	K562	blood:

No data

Variant related genes	Relation type
MCM9	TF binding region
ENSG00000178913	Chromatin interaction
ENSG00000111879	Chromatin interaction
ENSG00000111885	Chromatin interaction
ENSG00000111860	Chromatin interaction
ENSG00000255729	Chromatin interaction
ENSG00000253194	Chromatin interaction
ENSG00000111877	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10080855	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10456919	0.80[EUR][1000 genomes]
rs1087453	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1087454	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1087455	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11153785	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12190974	0.80[EUR][1000 genomes]
rs12191490	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12191819	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12194515	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12195153	0.80[EUR][1000 genomes]
rs12196440	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12197931	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12200499	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12203353	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12203542	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12206826	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12210027	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12212179	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12214434	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12216519	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1321836	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1342793	0.80[EUR][1000 genomes]
rs1407205	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1407206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1539434	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2295709	0.82[ASN][1000 genomes]
rs2357022	0.80[EUR][1000 genomes]
rs284914	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs284915	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs284916	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs284918	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs284920	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs376225	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3798594	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3798595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3798599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs388987	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs409849	0.84[ASN][1000 genomes]
rs41292550	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41292554	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4946384	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55810806	0.80[EUR][1000 genomes]
rs56794995	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56895036	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6935641	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6937499	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs706971	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs706978	0.80[EUR][1000 genomes]
rs706979	0.80[EUR][1000 genomes]
rs72966811	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72966851	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72966873	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72966896	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72970448	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs768995	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs768996	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs794250	0.80[EUR][1000 genomes]
rs794252	0.80[EUR][1000 genomes]
rs794253	0.80[EUR][1000 genomes]
rs794254	0.80[EUR][1000 genomes]
rs794259	0.81[ASN][1000 genomes]
rs794606	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs794607	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs794608	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs794611	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs797002	0.80[EUR][1000 genomes]
rs797017	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs811201	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs811584	0.80[EUR][1000 genomes]
rs9320673	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9374757	0.80[ASN][1000 genomes]
rs9387609	0.80[ASN][1000 genomes]
rs9481862	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9481868	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9481869	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9481870	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9481871	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9481872	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9481877	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9481878	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9489530	0.86[EUR][1000 genomes]
rs9489531	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9489535	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489536	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489537	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9489539	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489540	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489541	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9489543	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489544	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489547	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020405	chr6:118786586-119241006	ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1023826	chr6:119026481-119221408	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr6:119213400-119217800	Active TSS	Right Atrium	heart
2	chr6:119213600-119217000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:119213600-119217600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
4	chr6:119213600-119217800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:119213600-119218000	Active TSS	Primary T cells fromperipheralblood	blood
6	chr6:119213600-119218200	Active TSS	NHLF	lung
7	chr6:119213800-119217000	Active TSS	Fetal Muscle Leg	muscle
8	chr6:119213800-119217600	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr6:119213800-119217600	Active TSS	Fetal Thymus	thymus
10	chr6:119213800-119217600	Active TSS	HSMMtube	muscle
11	chr6:119213800-119218000	Active TSS	GM12878-XiMat	blood
12	chr6:119213800-119218200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
13	chr6:119214000-119217000	Active TSS	Fetal Intestine Large	intestine
14	chr6:119214000-119217000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr6:119214000-119217000	Active TSS	Fetal Stomach	stomach
16	chr6:119214000-119217000	Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr6:119214000-119217000	Active TSS	Stomach Smooth Muscle	stomach
18	chr6:119214000-119217000	Active TSS	NHDF-Ad	bronchial
19	chr6:119214000-119217200	Active TSS	NHEK	skin
20	chr6:119214000-119217400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:119214000-119217400	Active TSS	Brain Anterior Caudate	brain
22	chr6:119214000-119217400	Active TSS	Brain Cingulate Gyrus	brain
23	chr6:119214000-119217400	Active TSS	Thymus	Thymus
24	chr6:119214000-119217600	Active TSS	Fetal Brain Female	brain
25	chr6:119214000-119217800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:119214000-119218000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:119214000-119218000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:119214200-119217000	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr6:119214200-119217000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr6:119214200-119217000	Active TSS	Duodenum Mucosa	Duodenum
31	chr6:119214200-119217000	Active TSS	Fetal Lung	lung
32	chr6:119214200-119217200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr6:119214200-119217200	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr6:119214200-119217200	Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr6:119214200-119217200	Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr6:119214200-119217200	Active TSS	Muscle Satellite Cultured Cells	--
37	chr6:119214200-119217200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr6:119214200-119217600	Active TSS	H1 Cell Line	embryonic stem cell
39	chr6:119214200-119217600	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr6:119214200-119217600	Active TSS	A549	lung
41	chr6:119214200-119217800	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr6:119214200-119218200	Active TSS	H9 Cell Line	embryonic stem cell
43	chr6:119214400-119217200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr6:119214400-119217400	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr6:119214400-119217400	Active TSS	NH-A	brain
46	chr6:119214400-119217600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:119214400-119218000	Active TSS	HMEC	breast
48	chr6:119214400-119218200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr6:119214600-119217200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr6:119214600-119217200	Active TSS	Dnd41	blood

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