Variant report

Variant	rs9501030
Chromosome Location	chr6:30799399-30799400
allele	A/T
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:7)
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	chr6:30796869-30800063	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30797838..30800047-chr6:30860425..30862071,2	K562	blood:
2	chr6:30794216..30799803-chr6:30838849..30846731,16	K562	blood:
3	chr6:30798389..30801828-chr6:30850243..30854490,5	MCF-7	breast:
4	chr6:30703666..30722133-chr6:30776009..30801352,184	MCF-7	breast:
5	chr6:30780598..30803497-chr6:30842531..30855110,80	MCF-7	breast:
6	chr6:30796590..30799414-chr6:30814456..30816508,2	K562	blood:
7	chr6:30703055..30723531-chr6:30783853..30800217,151	MCF-7	breast:

No data

Variant related genes	Relation type
LINC00243	TF binding region
ENSG00000137331	Chromatin interaction
ENSG00000263608	Chromatin interaction
ENSG00000204580	Chromatin interaction
ENSG00000272273	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000237923	Chromatin interaction
ENSG00000237775	Chromatin interaction
ENSG00000201988	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10947113	0.87[EUR][1000 genomes]
rs10947114	0.87[EUR][1000 genomes]
rs12528271	0.87[EUR][1000 genomes]
rs12697941	0.87[EUR][1000 genomes]
rs2074511	0.81[EUR][1000 genomes]
rs2239518	0.81[EUR][1000 genomes]
rs2267641	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2286655	0.81[EUR][1000 genomes]
rs2286656	0.87[EUR][1000 genomes]
rs3213644	0.81[EUR][1000 genomes]
rs3916232	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4711249	0.81[EUR][1000 genomes]
rs4713402	0.81[EUR][1000 genomes]
rs9295928	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9295930	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9295933	0.81[EUR][1000 genomes]
rs9366761	0.81[EUR][1000 genomes]
rs9368646	0.81[EUR][1000 genomes]
rs9461639	0.87[EUR][1000 genomes]
rs9468843	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9468847	0.81[EUR][1000 genomes]
rs9501035	0.81[EUR][1000 genomes]
rs9501340	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9501491	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[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	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
5	esv2758041	chr6:30644693-30816319	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
6	esv2759413	chr6:30644693-30816319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
7	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
8	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

Variant related diseases (count:1)

Disease	PMID	Source
Ulcerative colitis	20848476	GWAS catalog

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30795800-30799400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr6:30796200-30805600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr6:30796200-30805600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr6:30796400-30805200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr6:30796400-30805400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr6:30796800-30799400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr6:30796800-30802200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:30796800-30802200	Weak transcription	HSMM	muscle
9	chr6:30796800-30802400	Weak transcription	Right Atrium	heart
10	chr6:30796800-30804000	Weak transcription	Fetal Heart	heart
11	chr6:30796800-30804000	Weak transcription	Fetal Lung	lung
12	chr6:30796800-30804400	Weak transcription	Brain Hippocampus Middle	brain
13	chr6:30796800-30811000	Weak transcription	Right Ventricle	heart
14	chr6:30797000-30802200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:30797000-30802200	Weak transcription	Osteobl	bone
16	chr6:30797000-30804000	Weak transcription	Adipose Nuclei	Adipose
17	chr6:30797000-30804000	Weak transcription	Left Ventricle	heart
18	chr6:30797000-30808400	Weak transcription	Esophagus	oesophagus
19	chr6:30797200-30804000	Weak transcription	Psoas Muscle	Psoas
20	chr6:30797200-30812000	Weak transcription	Lung	lung
21	chr6:30797600-30802200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr6:30797600-30802200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr6:30798000-30799600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr6:30798000-30802400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:30798000-30805600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr6:30798000-30805600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr6:30798000-30805600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr6:30798400-30799400	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr6:30798400-30799400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr6:30798400-30799600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr6:30798400-30799800	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr6:30798400-30799800	Weak transcription	Placenta	Placenta
33	chr6:30798400-30802600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr6:30798400-30804000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr6:30798400-30804000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr6:30798400-30809000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr6:30798600-30799600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr6:30798600-30802200	Enhancers	Fetal Thymus	thymus
39	chr6:30798800-30799600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr6:30798800-30799600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr6:30798800-30799600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr6:30798800-30799600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr6:30798800-30799600	Enhancers	Thymus	Thymus
44	chr6:30798800-30799800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr6:30798800-30799800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr6:30798800-30800000	Enhancers	Primary T cells fromperipheralblood	blood
47	chr6:30798800-30800400	Enhancers	Primary hematopoietic stem cells	blood
48	chr6:30798800-30801200	Enhancers	Dnd41	blood
49	chr6:30798800-30802000	Weak transcription	Primary B cells from peripheral blood	blood
50	chr6:30798800-30802200	Weak transcription	K562	blood

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