Variant report

Variant	rs73384352
Chromosome Location	chr6:27791404-27791405
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr6:27791335-27791949	K562	blood:	n/a	n/a
2	HEY1	chr6:27791389-27793561	K562	blood:	n/a	n/a
3	NFIC	chr6:27791252-27791960	HepG2	liver:	n/a	n/a
4	FOXM1	chr6:27791395-27792926	GM12878	blood:	n/a	n/a
5	ZBTB33	chr6:27791287-27791778	SK-N-SH	brain:	n/a	n/a
6	MTA3	chr6:27791352-27791860	GM12878	blood:	n/a	n/a
7	YY1	chr6:27791343-27791686	HepG2	liver:	n/a	n/a
8	YY1	chr6:27791383-27791673	K562	blood:	n/a	n/a
9	NFIC	chr6:27791330-27792676	GM12878	blood:	n/a	n/a
10	PML	chr6:27791315-27791948	K562	blood:	n/a	n/a
11	POLR2A	chr6:27791401-27791933	HCT-116	colon:	n/a	n/a
12	PML	chr6:27791368-27791966	K562	blood:	n/a	n/a
13	YY1	chr6:27791321-27791756	SK-N-SH_RA	brain:	n/a	n/a
14	POLR2A	chr6:27791398-27793485	SK-N-SH	brain:	n/a	n/a
15	MAX	chr6:27791392-27791935	K562	blood:	n/a	n/a
16	GATA1	chr6:27791318-27791750	PBDE	blood:	n/a	n/a
17	ZKSCAN1	chr6:27791393-27791933	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr6:27791403-27793563	K562	blood:	n/a	n/a
19	PML	chr6:27791270-27791984	GM12878	blood:	n/a	n/a
20	MYBL2	chr6:27791391-27792697	HepG2	liver:	n/a	n/a
21	NFIC	chr6:27791221-27793162	GM12878	blood:	n/a	n/a
22	POLR2A	chr6:27791183-27793137	MCF10A-Er-Src	breast:	n/a	n/a
23	MYBL2	chr6:27791299-27793027	HepG2	liver:	n/a	n/a
24	EP300	chr6:27791135-27791930	K562	blood:	n/a	n/a
25	NR2F2	chr6:27791348-27792831	K562	blood:	n/a	n/a
26	YY1	chr6:27791356-27791723	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAZ	chr6:27791400-27791871	GM12878	blood:	n/a	n/a
28	ZBTB33	chr6:27791281-27791794	SK-N-SH	brain:	n/a	n/a
29	YY1	chr6:27791382-27791691	SK-N-SH_RA	brain:	n/a	n/a
30	POLR2A	chr6:27791300-27794489	H1-hESC	embryonic stem cell:	n/a	n/a
31	MXI1	chr6:27791298-27791876	GM12878	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:26204679..26206586-chr6:27790923..27793517,4	K562	blood:
2	chr6:27098197..27103724-chr6:27790239..27793900,13	K562	blood:
3	chr6:27112528..27118803-chr6:27787647..27794623,16	K562	blood:
4	chr6:26203034..26206484-chr6:27789284..27793104,6	MCF-7	breast:
5	chr6:27103857..27108544-chr6:27789458..27794450,6	K562	blood:
6	chr6:26215488..26220486-chr6:27788576..27794997,7	K562	blood:
7	chr6:26156539..26159752-chr6:27789792..27793850,5	MCF-7	breast:
8	chr6:27093465..27120217-chr6:27768366..27817187,256	K562	blood:
9	chr6:27561798..27564734-chr6:27791089..27793910,2	K562	blood:
10	chr6:26215362..26217924-chr6:27790762..27793250,4	MCF-7	breast:
11	chr6:26283774..26285764-chr6:27791060..27793861,2	MCF-7	breast:
12	chr6:26030055..26033247-chr6:27790818..27793416,3	MCF-7	breast:
13	chr6:27100619..27103482-chr6:27790924..27794224,3	MCF-7	breast:

No data

Variant related genes	Relation type
HIST1H4J	TF binding region
ENSG00000124635	Chromatin interaction
ENSG00000158406	Chromatin interaction
ENSG00000198339	Chromatin interaction
ENSG00000124693	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000168298	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000206671	Chromatin interaction
ENSG00000198518	Chromatin interaction
ENSG00000168274	Chromatin interaction
ENSG00000187990	Chromatin interaction
ENSG00000158373	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11962485	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11962868	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11963732	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11966045	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11966528	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11966705	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11968670	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11970638	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57414310	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61072813	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6922530	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73386613	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73386619	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73386634	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73386656	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73386660	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73392695	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73392701	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73394721	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7748537	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7760283	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9461421	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9461422	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468253	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468257	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468261	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468262	1.00[EUR][1000 genomes];1.00[ASN][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	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv432858	chr6:27719375-28011652	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	387 gene(s)	inside rSNPs	diseases
3	nsv1017440	chr6:27734824-27864277	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	370 gene(s)	inside rSNPs	diseases
4	nsv1022173	chr6:27734824-27959408	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	379 gene(s)	inside rSNPs	diseases
5	nsv883512	chr6:27748631-27969004	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	379 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27783400-27791800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:27788000-27792000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:27788200-27792200	Weak transcription	A549	lung
4	chr6:27791000-27791600	Flanking Active TSS	Dnd41	blood
5	chr6:27791000-27792200	Active TSS	K562	blood
6	chr6:27791000-27793000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:27791200-27791600	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr6:27791200-27791600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr6:27791200-27791600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:27791200-27791600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:27791200-27791600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:27791200-27791600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:27791200-27791600	Flanking Active TSS	Fetal Brain Female	brain
14	chr6:27791200-27791600	Flanking Active TSS	HUVEC	blood vessel
15	chr6:27791200-27791600	Flanking Active TSS	NH-A	brain
16	chr6:27791200-27791600	Flanking Active TSS	Osteobl	bone
17	chr6:27791200-27791800	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr6:27791200-27791800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr6:27791200-27792200	Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr6:27791200-27792200	Active TSS	Adipose Nuclei	Adipose
21	chr6:27791200-27792200	Active TSS	Stomach Smooth Muscle	stomach
22	chr6:27791200-27792200	Active TSS	Monocytes-CD14+_RO01746	blood
23	chr6:27791200-27792400	Active TSS	Primary T cells fromperipheralblood	blood
24	chr6:27791200-27792600	Active TSS	Aorta	Aorta
25	chr6:27791200-27792600	Active TSS	Fetal Muscle Trunk	muscle
26	chr6:27791200-27792800	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr6:27791200-27792800	Active TSS	Muscle Satellite Cultured Cells	--
28	chr6:27791200-27792800	Active TSS	Fetal Brain Male	brain
29	chr6:27791200-27793000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:27791200-27793000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr6:27791200-27793000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:27791200-27793000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
33	chr6:27791200-27793000	Active TSS	Fetal Intestine Large	intestine
34	chr6:27791200-27793000	Active TSS	Rectal Mucosa Donor 31	rectum
35	chr6:27791200-27793200	Active TSS	Colonic Mucosa	Colon
36	chr6:27791200-27793200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr6:27791200-27793200	Active TSS	Fetal Lung	lung
38	chr6:27791200-27793200	Active TSS	Rectal Smooth Muscle	rectum
39	chr6:27791200-27793200	Active TSS	Right Atrium	heart
40	chr6:27791200-27793400	Active TSS	Brain Anterior Caudate	brain
41	chr6:27791200-27793400	Active TSS	Fetal Muscle Leg	muscle
42	chr6:27791200-27793400	Active TSS	Fetal Stomach	stomach
43	chr6:27791200-27793400	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr6:27791200-27793400	Active TSS	NHLF	lung
45	chr6:27791200-27793600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:27791200-27793600	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr6:27791200-27793600	Active TSS	GM12878-XiMat	blood
48	chr6:27791200-27793800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr6:27791200-27794000	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr6:27791200-27794000	Active TSS	Fetal Intestine Small	intestine

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