Variant report

Variant	rs6984839
Chromosome Location	chr8:122652401-122652402
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:63)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:63 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTBP2	chr8:122651439-122652858	H1-hESC	embryonic stem cell:	n/a	n/a
2	TCF7L2	chr8:122651436-122652457	HCT-116	colon:	n/a	n/a
3	POLR2A	chr8:122651192-122652690	U87	brain:	n/a	n/a
4	POLR2A	chr8:122651442-122652525	A549	lung:	n/a	n/a
5	RAD21	chr8:122652282-122652680	SK-N-SH_RA	brain:	n/a	n/a
6	USF2	chr8:122652120-122652536	H1-hESC	embryonic stem cell:	n/a	n/a
7	SIN3AK20	chr8:122651393-122652436	PANC-1	pancreas:	n/a	n/a
8	MXI1	chr8:122651036-122653352	IMR90	lung:	n/a	chr8:122651550-122651559 chr8:122651552-122651561
9	REST	chr8:122651468-122652404	A549	lung:	n/a	n/a
10	ZBTB7A	chr8:122651842-122652626	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr8:122649915-122654889	IMR90	lung:	n/a	n/a
12	TCF12	chr8:122651162-122653311	A549	lung:	n/a	n/a
13	POLR2A	chr8:122651456-122652442	A549	lung:	n/a	n/a
14	SP1	chr8:122651209-122652587	A549	lung:	n/a	chr8:122652481-122652491 chr8:122652481-122652491
15	MYC	chr8:122652163-122652411	MCF-7	breast:	n/a	n/a
16	MXI1	chr8:122650825-122653329	SK-N-SH	brain:	n/a	chr8:122651550-122651559 chr8:122651552-122651561
17	ZBTB7A	chr8:122651615-122652589	ECC-1	luminal epithelium:	n/a	n/a
18	SIN3AK20	chr8:122652277-122652676	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr8:122651404-122653302	H1-neurons	neurons:	n/a	n/a
20	E2F6	chr8:122651363-122652460	A549	lung:	n/a	chr8:122651524-122651533
21	TBP	chr8:122651255-122652791	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr8:122652118-122652602	H1-neurons	neurons:	n/a	n/a
23	HDAC2	chr8:122652135-122652488	H1-hESC	embryonic stem cell:	n/a	n/a
24	REST	chr8:122652128-122653105	H1-neurons	neurons:	n/a	n/a
25	TAF1	chr8:122652059-122652446	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAX	chr8:122651255-122652461	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr8:122652105-122652514	U87	brain:	n/a	n/a
28	TAF1	chr8:122652143-122652601	SK-N-SH	brain:	n/a	n/a
29	E2F6	chr8:122651171-122652498	H1-hESC	embryonic stem cell:	n/a	chr8:122651524-122651533
30	RAD21	chr8:122651314-122652840	H1-hESC	embryonic stem cell:	n/a	n/a
31	BACH1	chr8:122652087-122652658	H1-hESC	embryonic stem cell:	n/a	n/a
32	MAX	chr8:122651350-122652593	ECC-1	luminal epithelium:	n/a	n/a
33	POLR2A	chr8:122651151-122653022	SK-N-SH	brain:	n/a	n/a
34	MAX	chr8:122651277-122652657	H1-hESC	embryonic stem cell:	n/a	n/a
35	MAX	chr8:122651238-122652788	A549	lung:	n/a	n/a
36	MAX	chr8:122651292-122652751	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr8:122645249-122654754	ProgFib	skin:	n/a	n/a
38	HA-E2F1	chr8:122651427-122652635	MCF-7	breast:	n/a	chr8:122651524-122651533
39	ZNF143	chr8:122651457-122652835	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr8:122651468-122652440	A549	lung:	n/a	n/a
41	MAX	chr8:122651385-122652442	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr8:122652110-122652458	A549	lung:	n/a	n/a
43	MAX	chr8:122651140-122653022	A549	lung:	n/a	n/a
44	POLR2A	chr8:122651191-122652595	PANC-1	pancreas:	n/a	n/a
45	MXI1	chr8:122651913-122652492	H1-hESC	embryonic stem cell:	n/a	n/a
46	MAX	chr8:122651399-122652409	A549	lung:	n/a	n/a
47	E2F6	chr8:122651228-122652637	A549	lung:	n/a	chr8:122651524-122651533
48	POLR2A	chr8:122651244-122652670	H1-hESC	embryonic stem cell:	n/a	n/a
49	CREB1	chr8:122651295-122652434	A549	lung:	n/a	n/a
50	SIN3AK20	chr8:122652119-122652726	SK-N-SH	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:122652388-122652438	BJ	skin:	n/a
2	chr8:122652388-122652438	SK-N-MC	brain:	n/a
3	chr8:122652388-122652438	HRPEpiC	eye:	n/a
4	chr8:122652388-122652438	GM12878	blood:	n/a
5	chr8:122652388-122652438	HCT-116	colon:	n/a
6	chr8:122652388-122652438	Caco-2	colon:	n/a
7	chr8:122652388-122652438	BE2_C	brain:	n/a
8	chr8:122652388-122652438	Hepatocyte	liver:	n/a
9	chr8:122652388-122652438	AG10803	skin:	n/a
10	chr8:122652388-122652438	PANC-1	pancreas:	n/a
11	chr8:122652388-122652438	HAEpiC	amniotic membrane:	n/a
12	chr8:122652388-122652438	HCPEpiC	choroid plexus:	n/a
13	chr8:122652388-122652438	GM12891	blood:	n/a
14	chr8:122652388-122652438	HepG2	liver:	n/a
15	chr8:122652388-122652438	HMEC	breast:	n/a
16	chr8:122652388-122652438	A549	lung:	n/a
17	chr8:122652388-122652438	NT2-D1	testis:	n/a
18	chr8:122652388-122652438	T-47D	breast:	n/a
19	chr8:122652388-122652438	SAEC	small airway:	n/a
20	chr8:122652388-122652438	NHBE	bronchial:	n/a
21	chr8:122652388-122652438	GM19239	blood:	n/a
22	chr8:122652388-122652438	GM06990	blood:	n/a
23	chr8:122652388-122652438	NB4	blood:	n/a
24	chr8:122652388-122652438	U87	brain:	n/a
25	chr8:122652388-122652438	ProgFib	skin:	n/a
26	chr8:122652388-122652438	PFSK-1	brain:	n/a
27	chr8:122652388-122652438	AoSMC	blood vessel:	n/a
28	chr8:122652388-122652438	ovcar-3	ovarian:	n/a
29	chr8:122652388-122652438	ECC-1	luminal epithelium:	n/a
30	chr8:122652388-122652438	NHDF-neo	bronchial:	n/a
31	chr8:122652388-122652438	NH-A	brain:	n/a
32	chr8:122652388-122652438	CMK	blood:	n/a
33	chr8:122652388-122652438	HCM	heart:	n/a
34	chr8:122652388-122652438	AG04449	skin:	fetal
35	chr8:122652388-122652438	SK-N-SH	brain:	n/a
36	chr8:122652388-122652438	HPAEpiC	pulmonary alveolar:	n/a
37	chr8:122652388-122652438	GM12892	blood:	n/a
38	chr8:122652388-122652438	Hela-S3	cervix:	n/a
39	chr8:122652388-122652438	AG04450	lung:	fetal
40	chr8:122652388-122652438	HRCEpiC	kidney:	n/a
41	chr8:122652388-122652438	LNCaP	prostate:	n/a
42	chr8:122652388-122652438	Jurkat	blood:	n/a
43	chr8:122652388-122652438	HIPEpiC	eye:	n/a
44	chr8:122652388-122652438	HNPCEpiC	eye:	n/a
45	chr8:122652388-122652438	HUVEC	blood vessel:	n/a
46	chr8:122652388-122652438	AG09309	skin:	n/a
47	chr8:122652388-122652438	MCF-7	breast:	n/a
48	chr8:122652388-122652438	IMR90	lung:	fetal
49	chr8:122652388-122652438	MCF10A-Er-Src	breast:	n/a
50	chr8:122652388-122652438	HRE	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:122649542..122651983-chr8:122652240..122655106,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-785H20.1.1-2	chr8:122651586-122652408	NONHSAT128466
2	lnc-RP11-785H20.1.1-2	chr8:122651586-122652408	ENSG00000248690

No data

Variant related genes	Relation type
HAS2-AS1	TF binding region
HAS2-AS1	CpG island
ENSG00000248690	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10086278	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10094125	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10097083	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10102290	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10112917	0.94[ASN][1000 genomes]
rs11784137	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1871884	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1987444	0.94[ASN][1000 genomes]
rs2385924	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28583171	0.94[ASN][1000 genomes]
rs28613240	0.81[ASN][1000 genomes]
rs28778395	0.90[ASN][1000 genomes]
rs4437656	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4871210	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61488251	0.91[ASN][1000 genomes]
rs62524935	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62524936	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62526466	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs62526467	0.94[ASN][1000 genomes]
rs6651224	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7000634	0.92[ASN][1000 genomes]
rs7009945	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7817920	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7821080	0.83[ASN][1000 genomes]
rs7834455	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7834907	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7837322	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033501	chr8:122436332-122758651	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv831446	chr8:122535039-122711959	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:122648800-122655000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:122649200-122654800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:122649800-122654000	Active TSS	NH-A	brain
4	chr8:122649800-122655200	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr8:122650000-122655200	Active TSS	Fetal Kidney	kidney
6	chr8:122650000-122655200	Active TSS	Right Atrium	heart
7	chr8:122650400-122655000	Active TSS	NHLF	lung
8	chr8:122650800-122654400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:122650800-122654800	Active TSS	NHDF-Ad	bronchial
10	chr8:122650800-122655000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:122651000-122654200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr8:122651000-122654800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:122651000-122654800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:122651000-122654800	Active TSS	Muscle Satellite Cultured Cells	--
15	chr8:122651200-122652800	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr8:122651200-122652800	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr8:122651200-122654200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
18	chr8:122651200-122654400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:122651200-122654800	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr8:122651200-122654800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:122651200-122654800	Active TSS	A549	lung
22	chr8:122651200-122655400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:122651400-122652600	Bivalent Enhancer	Spleen	Spleen
24	chr8:122651400-122652600	Active TSS	HSMMtube	muscle
25	chr8:122651400-122652800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
26	chr8:122651400-122652800	Active TSS	Osteobl	bone
27	chr8:122651400-122653000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
28	chr8:122651400-122653000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
29	chr8:122651400-122653000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
30	chr8:122651400-122653200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:122651400-122653200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr8:122651400-122653200	Flanking Active TSS	HMEC	breast
33	chr8:122651400-122653600	Active TSS	Brain Angular Gyrus	brain
34	chr8:122651400-122654000	Active TSS	Brain Substantia Nigra	brain
35	chr8:122651400-122654000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
36	chr8:122651400-122654400	Bivalent Enhancer	Fetal Heart	heart
37	chr8:122651400-122654800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr8:122651400-122655000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr8:122651400-122655000	Active TSS	HSMM	muscle
40	chr8:122651400-122655200	Active TSS	H9 Cell Line	embryonic stem cell
41	chr8:122651600-122652600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:122651600-122652600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
43	chr8:122651600-122652600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
44	chr8:122651600-122652600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:122651600-122652600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
46	chr8:122651600-122652800	Flanking Active TSS	Placenta Amnion	Placenta Amnion
47	chr8:122651600-122652800	Flanking Active TSS	HUVEC	blood vessel
48	chr8:122651600-122653000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
49	chr8:122651600-122653000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
50	chr8:122651600-122653000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle

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