Variant report

Variant	rs6985208
Chromosome Location	chr8:61565436-61565437
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:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:61326797..61329744-chr8:61563148..61565858,2	MCF-7	breast:
2	chr8:61549221..61552065-chr8:61563903..61565606,2	MCF-7	breast:
3	chr8:61495825..61497744-chr8:61563295..61565578,2	MCF-7	breast:
4	chr8:61563492..61565513-chr8:61620455..61623990,3	MCF-7	breast:
5	chr8:61563289..61565598-chr8:61614731..61616834,3	MCF-7	breast:
6	chr8:61564273..61566046-chr8:61966566..61969485,2	MCF-7	breast:
7	chr8:61562515..61568989-chr8:61586860..61594946,37	MCF-7	breast:
8	chr8:61564583..61565448-chr8:61591853..61592483,2	K562	blood:
9	chr8:61563266..61565580-chr8:61566081..61568561,3	MCF-7	breast:
10	chr8:61559343..61568621-chr8:61588061..61597189,35	MCF-7	breast:
11	chr8:61563378..61566107-chr8:61998856..62000891,3	K562	blood:
12	chr8:61563862..61565841-chr8:61998219..62000359,2	K562	blood:
13	chr8:61428155..61432658-chr8:61561209..61565927,6	K562	blood:
14	chr8:61552364..61555028-chr8:61563489..61565765,2	MCF-7	breast:
15	chr8:61322849..61326480-chr8:61562995..61566065,5	MCF-7	breast:
16	chr8:61563005..61568398-chr8:61588453..61593214,14	K562	blood:
17	chr8:61428198..61432658-chr8:61562541..61565732,7	K562	blood:
18	chr8:61562433..61567496-chr8:61571905..61575539,5	K562	blood:
19	chr8:61563900..61565522-chr8:61931938..61933624,2	MCF-7	breast:
20	chr8:61531895..61534395-chr8:61564231..61565929,2	MCF-7	breast:
21	chr21:43795518..43797652-chr8:61562855..61565743,2	MCF-7	breast:
22	chr8:61377484..61379005-chr8:61563115..61565919,2	K562	blood:
23	chr8:61564289..61566085-chr8:62064724..62067710,2	K562	blood:
24	chr8:61562616..61568326-chr8:61569044..61575643,11	MCF-7	breast:
25	chr8:61562679..61568216-chr8:61588453..61593754,19	K562	blood:
26	chr8:61562599..61565494-chr9:18702295..18704681,2	MCF-7	breast:
27	chr8:61530201..61533148-chr8:61561938..61565788,3	K562	blood:
28	chr8:61564005..61565776-chr8:61682362..61684915,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254869	Chromatin interaction
ENSG00000255289	Chromatin interaction
ENSG00000104388	Chromatin interaction
ENSG00000171316	Chromatin interaction
ENSG00000251396	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2930039	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2946152	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2981276	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2981278	1.00[ASN][1000 genomes]
rs57578368	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61433442	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61517679	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61701788	1.00[ASN][1000 genomes]
rs6990401	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7016550	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv824657	chr8:61555227-61626758	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv824658	chr8:61561488-61612108	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	esv3370592	chr8:61563423-61565971	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	20 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	chr8:61563400-61565600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:61563400-61565600	Active TSS	Cortex derived primary cultured neurospheres	brain
3	chr8:61563400-61565600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:61563400-61566400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:61563400-61566400	Active TSS	Right Atrium	heart
6	chr8:61563400-61566400	Active TSS	HSMMtube	muscle
7	chr8:61563400-61566800	Active TSS	Sigmoid Colon	Sigmoid Colon
8	chr8:61563400-61567200	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr8:61563600-61565600	Active TSS	H9 Cell Line	embryonic stem cell
10	chr8:61563600-61565600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:61563600-61565600	Active TSS	Fetal Muscle Trunk	muscle
12	chr8:61563600-61565600	Active TSS	Fetal Muscle Leg	muscle
13	chr8:61563600-61565600	Active TSS	Left Ventricle	heart
14	chr8:61563600-61565600	Active TSS	HepG2	liver
15	chr8:61563600-61566000	Active TSS	Small Intestine	intestine
16	chr8:61563600-61566200	Active TSS	A549	lung
17	chr8:61563600-61566800	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr8:61563600-61566800	Active TSS	Placenta Amnion	Placenta Amnion
19	chr8:61563600-61566800	Active TSS	Psoas Muscle	Psoas
20	chr8:61563600-61566800	Active TSS	Right Ventricle	heart
21	chr8:61563800-61565600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:61563800-61565600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:61563800-61565600	Active TSS	Brain Germinal Matrix	brain
24	chr8:61563800-61565600	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr8:61563800-61565600	Active TSS	Placenta	Placenta
26	chr8:61563800-61565600	Active TSS	Stomach Smooth Muscle	stomach
27	chr8:61563800-61566600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr8:61563800-61566800	Active TSS	Brain Anterior Caudate	brain
29	chr8:61563800-61566800	Active TSS	Brain Hippocampus Middle	brain
30	chr8:61563800-61566800	Active TSS	Brain Substantia Nigra	brain
31	chr8:61563800-61566800	Active TSS	Fetal Intestine Large	intestine
32	chr8:61563800-61566800	Active TSS	GM12878-XiMat	blood
33	chr8:61564000-61565600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr8:61564000-61565600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr8:61564000-61565600	Active TSS	Aorta	Aorta
36	chr8:61564000-61565600	Active TSS	Lung	lung
37	chr8:61564000-61565600	Active TSS	Pancreas	Pancrea
38	chr8:61564000-61565800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:61564000-61566400	Active TSS	Esophagus	oesophagus
40	chr8:61564000-61566400	Active TSS	Spleen	Spleen
41	chr8:61564000-61566600	Active TSS	Ovary	ovary
42	chr8:61564000-61566800	Active TSS	Gastric	stomach
43	chr8:61564200-61565600	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr8:61564200-61565800	Active TSS	Primary T cells from cord blood	blood
45	chr8:61564200-61565800	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr8:61564200-61566200	Flanking Bivalent TSS/Enh	Thymus	Thymus
47	chr8:61564200-61566400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
48	chr8:61564200-61566600	Active TSS	Primary B cells from peripheral blood	blood
49	chr8:61564200-61566800	Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr8:61564200-61566800	Active TSS	Primary T killer memory cells from peripheral blood	blood

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