Variant report

Variant	rs9378150
Chromosome Location	chr6:30869693-30869694
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:30868738-30869856	MCF-7	breast:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30863479..30866795-chr6:30867432..30870165,5	MCF-7	breast:
2	chr6:30708211..30712541-chr6:30866148..30872025,6	MCF-7	breast:
3	chr6:30862272..30864527-chr6:30868811..30870575,3	K562	blood:
4	chr6:30867554..30871649-chr6:30872522..30875092,3	MCF-7	breast:
5	chr6:30862272..30865026-chr6:30868683..30870575,2	K562	blood:
6	chr6:30844365..30846082-chr6:30868883..30871226,2	K562	blood:
7	chr6:30867567..30870508-chr6:30872843..30875711,3	K562	blood:
8	chr6:30865395..30867795-chr6:30868039..30871871,4	K562	blood:

No data

Variant related genes	Relation type
RN7SL175P	TF binding region
ENSG00000137312	Chromatin interaction
ENSG00000264731	Chromatin interaction
ENSG00000137331	Chromatin interaction
ENSG00000204580	Chromatin interaction
ENSG00000272273	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs13212094	1.00[AFR][1000 genomes]
rs16897919	1.00[AFR][1000 genomes]
rs16897933	1.00[AFR][1000 genomes]
rs2286654	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3869091	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4711248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4711250	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4713378	1.00[AFR][1000 genomes]
rs9295937	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs9348844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9357103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9366762	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9368645	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9368648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9391637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9394024	1.00[AFR][1000 genomes]
rs9404935	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
5	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
6	nsv884109	chr6:30824532-30872203	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv1031677	chr6:30857542-30972865	Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv525438	chr6:30864829-30933975	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30854600-30875400	Weak transcription	Psoas Muscle	Psoas
2	chr6:30854800-30870000	Weak transcription	Primary B cells from cord blood	blood
3	chr6:30854800-30875200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr6:30854800-30875400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr6:30858400-30875400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr6:30858400-30875400	Weak transcription	Right Atrium	heart
7	chr6:30858400-30876000	Weak transcription	Fetal Heart	heart
8	chr6:30858600-30875200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr6:30858800-30875200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr6:30859200-30875000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr6:30863200-30875200	Weak transcription	Fetal Brain Male	brain
12	chr6:30863600-30875400	Weak transcription	Osteobl	bone
13	chr6:30865400-30875400	Weak transcription	HSMM	muscle
14	chr6:30865600-30875200	Weak transcription	Fetal Kidney	kidney
15	chr6:30865600-30875200	Weak transcription	Hela-S3	cervix
16	chr6:30865800-30875400	Weak transcription	NH-A	brain
17	chr6:30866400-30875200	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr6:30866600-30876000	Weak transcription	Small Intestine	intestine
19	chr6:30866800-30875200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr6:30867200-30875200	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr6:30867200-30875400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr6:30867200-30875400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr6:30867200-30875400	Weak transcription	NHLF	lung
24	chr6:30867400-30875200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr6:30867400-30875200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:30867400-30875200	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr6:30867400-30875400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr6:30867400-30875400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr6:30867400-30875400	Weak transcription	Colon Smooth Muscle	Colon
30	chr6:30867400-30875400	Weak transcription	Right Ventricle	heart
31	chr6:30867600-30870000	Weak transcription	Primary B cells from peripheral blood	blood
32	chr6:30867600-30870200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr6:30867600-30873000	Weak transcription	HepG2	liver
34	chr6:30867600-30874800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr6:30867600-30875000	Weak transcription	Stomach Mucosa	stomach
36	chr6:30867600-30875000	Weak transcription	A549	lung
37	chr6:30867600-30875000	Weak transcription	K562	blood
38	chr6:30867600-30875200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:30867600-30875200	Weak transcription	Liver	Liver
40	chr6:30867600-30875200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr6:30867600-30875200	Weak transcription	Pancreas	Pancrea
42	chr6:30867600-30875200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr6:30867600-30875400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr6:30867600-30875400	Weak transcription	Adipose Nuclei	Adipose
45	chr6:30867600-30875400	Weak transcription	Aorta	Aorta
46	chr6:30867600-30875400	Weak transcription	Brain Angular Gyrus	brain
47	chr6:30867600-30875400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr6:30867600-30875400	Weak transcription	Brain Substantia Nigra	brain
49	chr6:30867600-30875400	Weak transcription	Fetal Lung	lung
50	chr6:30867600-30875400	Weak transcription	Left Ventricle	heart

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