Variant report

Variant	rs9500858
Chromosome Location	chr6:30297603-30297604
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:30297025-30297671	HL-60	blood:	n/a	n/a
2	POLR2A	chr6:30297072-30297659	K562	blood:	n/a	n/a
3	POLR2A	chr6:30297035-30297751	HL-60	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:30297594-30297644	CMK	blood:	n/a
2	chr6:30297594-30297644	HCPEpiC	choroid plexus:	n/a
3	chr6:30297565-30297615	Caco-2	colon:	n/a
4	chr6:30297594-30297644	H1-hESC	embryonic stem cell:	embryo
5	chr6:30297565-30297615	HMEC	breast:	n/a
6	chr6:30297565-30297615	AG04449	skin:	fetal
7	chr6:30297594-30297644	AG04449	skin:	fetal
8	chr6:30297565-30297615	HRE	kidney:	n/a
9	chr6:30297594-30297644	Jurkat	blood:	n/a
10	chr6:30297594-30297644	NHDF-neo	bronchial:	n/a
11	chr6:30297565-30297615	AG09309	skin:	n/a
12	chr6:30297594-30297644	BJ	skin:	n/a
13	chr6:30297594-30297644	NHBE	bronchial:	n/a
14	chr6:30297565-30297615	PFSK-1	brain:	n/a
15	chr6:30297565-30297615	AG09319	gingival:	n/a
16	chr6:30297594-30297644	ECC-1	luminal epithelium:	n/a
17	chr6:30297594-30297644	HEK293	kidney:	embryo
18	chr6:30297565-30297615	HAEpiC	amniotic membrane:	n/a
19	chr6:30297565-30297615	SK-N-SH	brain:	n/a
20	chr6:30297565-30297615	BJ	skin:	n/a
21	chr6:30297565-30297615	GM12891	blood:	n/a
22	chr6:30297594-30297644	NH-A	brain:	n/a
23	chr6:30297565-30297615	H1-hESC	embryonic stem cell:	embryo
24	chr6:30297565-30297615	SKMC	muscle:	n/a
25	chr6:30297594-30297644	NB4	blood:	n/a
26	chr6:30297565-30297615	GM12892	blood:	n/a
27	chr6:30297594-30297644	PFSK-1	brain:	n/a
28	chr6:30297565-30297615	PANC-1	pancreas:	n/a
29	chr6:30297594-30297644	Hela-S3	cervix:	n/a
30	chr6:30297594-30297644	HIPEpiC	eye:	n/a
31	chr6:30297565-30297615	AG04450	lung:	fetal
32	chr6:30297565-30297615	MCF10A-Er-Src	breast:	n/a
33	chr6:30297565-30297615	ProgFib	skin:	n/a
34	chr6:30297565-30297615	GM12878	blood:	n/a
35	chr6:30297565-30297615	NHBE	bronchial:	n/a
36	chr6:30297594-30297644	HRCEpiC	kidney:	n/a
37	chr6:30297565-30297615	SK-N-SH_RA	brain:	n/a
38	chr6:30297594-30297644	LNCaP	prostate:	n/a
39	chr6:30297565-30297615	HEK293	kidney:	embryo
40	chr6:30297594-30297644	GM06990	blood:	n/a
41	chr6:30297565-30297615	LNCaP	prostate:	n/a
42	chr6:30297594-30297644	U87	brain:	n/a
43	chr6:30297594-30297644	HPAEpiC	pulmonary alveolar:	n/a
44	chr6:30297594-30297644	HEEpiC	esophagus:	n/a
45	chr6:30297565-30297615	CMK	blood:	n/a
46	chr6:30297594-30297644	HRE	kidney:	n/a
47	chr6:30297594-30297644	AoSMC	blood vessel:	n/a
48	chr6:30297565-30297615	HPAEpiC	pulmonary alveolar:	n/a
49	chr6:30297594-30297644	GM12892	blood:	n/a
50	chr6:30297594-30297644	HAEpiC	amniotic membrane:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:30293058..30297784-chr6:30308514..30315279,24	MCF-7	breast:

No data

Variant related genes	Relation type
HCG18	TF binding region
HCG17	TF binding region
HCG17	CpG island
HCG18	CpG island
ENSG00000241370	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16897388	1.00[AMR][1000 genomes]
rs57390275	1.00[AMR][1000 genomes]
rs9295845	1.00[AMR][1000 genomes]
rs9461575	1.00[AMR][1000 genomes]
rs9468697	1.00[AMR][1000 genomes]
rs9468698	1.00[AMR][1000 genomes]
rs9468699	1.00[AMR][1000 genomes]
rs9468701	1.00[AMR][1000 genomes]
rs9468757	1.00[AMR][1000 genomes]
rs9500861	1.00[AMR][1000 genomes]
rs9501318	1.00[AMR][1000 genomes]
rs9501319	1.00[AMR][1000 genomes]
rs9501320	1.00[AMR][1000 genomes]
rs9501428	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 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	chr6:30295400-30303400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:30295400-30309400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:30295600-30299400	Weak transcription	Stomach Mucosa	stomach
4	chr6:30295600-30301800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:30295600-30303400	Weak transcription	Psoas Muscle	Psoas
6	chr6:30295600-30312600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr6:30295600-30312600	Weak transcription	Right Atrium	heart
8	chr6:30295600-30313000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:30295800-30303200	Weak transcription	NHDF-Ad	bronchial
10	chr6:30295800-30303400	Weak transcription	A549	lung
11	chr6:30295800-30311000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:30295800-30312400	Weak transcription	Fetal Heart	heart
13	chr6:30295800-30312400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr6:30296000-30297800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr6:30296200-30310400	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr6:30296600-30299600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:30296600-30310600	Strong transcription	Primary B cells from peripheral blood	blood
18	chr6:30296800-30298600	Strong transcription	Hela-S3	cervix
19	chr6:30296800-30299200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr6:30296800-30299600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr6:30296800-30300400	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr6:30296800-30301000	Strong transcription	NH-A	brain
23	chr6:30296800-30310000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:30296800-30310000	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr6:30296800-30310200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:30296800-30310400	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr6:30296800-30310600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:30296800-30310800	Strong transcription	Fetal Brain Female	brain
29	chr6:30296800-30311200	Strong transcription	Placenta	Placenta
30	chr6:30296800-30311400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr6:30296800-30311800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr6:30297000-30298000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr6:30297000-30299000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr6:30297000-30299000	Strong transcription	Fetal Intestine Small	intestine
35	chr6:30297000-30299400	Strong transcription	Fetal Stomach	stomach
36	chr6:30297000-30299400	Strong transcription	Lung	lung
37	chr6:30297000-30299600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:30297000-30299600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr6:30297000-30299800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:30297000-30299800	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr6:30297000-30300000	Strong transcription	Brain Hippocampus Middle	brain
42	chr6:30297000-30300200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr6:30297000-30300200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr6:30297000-30300200	Strong transcription	Fetal Muscle Leg	muscle
45	chr6:30297000-30300400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr6:30297000-30300400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr6:30297000-30300400	Strong transcription	Fetal Muscle Trunk	muscle
48	chr6:30297000-30300400	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr6:30297000-30304200	Strong transcription	Ovary	ovary
50	chr6:30297000-30305000	Strong transcription	Cortex derived primary cultured neurospheres	brain

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