Variant report

Variant	rs2233131
Chromosome Location	chr7:108210019-108210020
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:546)
CpG islands
(count:61)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:546 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:108209465-108210794	Hela-S3	cervix:	n/a	n/a
2	BRCA1	chr7:108209621-108210666	GM12878	blood:	n/a	n/a
3	MAX	chr7:108209409-108210831	A549	lung:	n/a	chr7:108209636-108209645
4	MAX	chr7:108209449-108211215	Hela-S3	cervix:	n/a	chr7:108209636-108209645
5	ELF1	chr7:108209617-108210933	GM12878	blood:	n/a	chr7:108209945-108209958
6	E2F6	chr7:108209399-108210973	H1-hESC	embryonic stem cell:	n/a	chr7:108210790-108210800
7	USF1	chr7:108210001-108210517	GM12878	blood:	n/a	chr7:108210265-108210276
8	PML	chr7:108209656-108210900	MCF-7	breast:	n/a	n/a
9	E2F4	chr7:108209187-108210522	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr7:108209607-108210915	GM12878	blood:	n/a	n/a
11	PML	chr7:108209677-108210715	MCF-7	breast:	n/a	n/a
12	GABPA	chr7:108209948-108210557	HepG2	liver:	n/a	n/a
13	YY1	chr7:108209662-108210499	SK-N-SH_RA	brain:	n/a	n/a
14	FOXM1	chr7:108209441-108210606	GM12878	blood:	n/a	n/a
15	ATF2	chr7:108209737-108210485	H1-hESC	embryonic stem cell:	n/a	n/a
16	JUND	chr7:108209746-108210570	H1-hESC	embryonic stem cell:	n/a	n/a
17	TAF1	chr7:108209581-108210570	A549	lung:	n/a	n/a
18	CEBPB	chr7:108209826-108210356	A549	lung:	n/a	n/a
19	EP300	chr7:108209732-108210568	HepG2	liver:	n/a	n/a
20	TAF1	chr7:108209515-108210728	ECC-1	luminal epithelium:	n/a	n/a
21	MBD4	chr7:108209529-108210546	HepG2	liver:	n/a	n/a
22	KAP1	chr7:108209759-108210304	U2OS	brain:	n/a	n/a
23	POLR2A	chr7:108209545-108210728	U87	brain:	n/a	n/a
24	MYC	chr7:108209506-108210668	K562	blood:	n/a	chr7:108209636-108209645
25	USF1	chr7:108209899-108210554	SK-N-SH_RA	brain:	n/a	chr7:108210265-108210276
26	TBP	chr7:108209670-108211163	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr7:108209635-108210622	HEK293	kidney:	n/a	n/a
28	CREB1	chr7:108209872-108210586	H1-hESC	embryonic stem cell:	n/a	n/a
29	JUN	chr7:108209824-108210192	H1-hESC	embryonic stem cell:	n/a	n/a
30	MYC	chr7:108209471-108211384	K562	blood:	n/a	chr7:108209636-108209645
31	NFATC1	chr7:108209300-108210246	GM12878	blood:	n/a	n/a
32	POLR2A	chr7:108209698-108210570	PANC-1	pancreas:	n/a	n/a
33	POLR2A	chr7:108209625-108210657	HepG2	liver:	n/a	n/a
34	POLR2A	chr7:108209066-108211445	GM12891	blood:	n/a	n/a
35	TCF12	chr7:108209719-108210535	GM12878	blood:	n/a	n/a
36	MYC	chr7:108209467-108211334	NB4	blood:	n/a	chr7:108209636-108209645
37	YY1	chr7:108209627-108210722	GM12878	blood:	n/a	n/a
38	POLR2A	chr7:108209567-108210815	PFSK-1	brain:	n/a	n/a
39	CHD2	chr7:108209803-108211065	Hela-S3	cervix:	n/a	n/a
40	MAX	chr7:108209197-108211617	K562	blood:	n/a	chr7:108209636-108209645
41	POLR2A	chr7:108208976-108212142	MCF10A-Er-Src	breast:	n/a	n/a
42	ZNF143	chr7:108209901-108210414	H1-hESC	embryonic stem cell:	n/a	n/a
43	JUN	chr7:108208251-108211889	K562	blood:	n/a	n/a
44	SIX5	chr7:108209236-108210404	A549	lung:	n/a	n/a
45	POLR2A	chr7:108209700-108210641	HepG2	liver:	n/a	n/a
46	POLR2A	chr7:108209657-108210563	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr7:108208967-108210802	SK-N-MC	brain:	n/a	n/a
48	MAX	chr7:108209623-108210575	K562	blood:	n/a	chr7:108209636-108209645
49	ATF3	chr7:108210011-108210464	H1-hESC	embryonic stem cell:	n/a	n/a
50	HA-E2F1	chr7:108209464-108211305	MCF-7	breast:	n/a	chr7:108210790-108210800

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:108210006-108210056	AoSMC	blood vessel:	n/a
2	chr7:108210006-108210056	HNPCEpiC	eye:	n/a
3	chr7:108210006-108210056	K562	blood:	n/a
4	chr7:108210006-108210056	HEK293	kidney:	embryo
5	chr7:108210006-108210056	H1-hESC	embryonic stem cell:	embryo
6	chr7:108210006-108210056	SK-N-SH	brain:	n/a
7	chr7:108210006-108210056	HAEpiC	amniotic membrane:	n/a
8	chr7:108210006-108210056	IMR90	lung:	fetal
9	chr7:108210006-108210056	HMEC	breast:	n/a
10	chr7:108210006-108210056	HPAEpiC	pulmonary alveolar:	n/a
11	chr7:108210006-108210056	ECC-1	luminal epithelium:	n/a
12	chr7:108210006-108210056	SKMC	muscle:	n/a
13	chr7:108210006-108210056	HL-60	blood:	n/a
14	chr7:108210006-108210056	BE2_C	brain:	n/a
15	chr7:108210006-108210056	AG04449	skin:	fetal
16	chr7:108210006-108210056	HIPEpiC	eye:	n/a
17	chr7:108210006-108210056	AG09319	gingival:	n/a
18	chr7:108210006-108210056	SK-N-SH_RA	brain:	n/a
19	chr7:108210006-108210056	U87	brain:	n/a
20	chr7:108210006-108210056	ProgFib	skin:	n/a
21	chr7:108210006-108210056	HRPEpiC	eye:	n/a
22	chr7:108210006-108210056	AG09309	skin:	n/a
23	chr7:108210006-108210056	PrEC	prostate:	n/a
24	chr7:108210006-108210056	T-47D	breast:	n/a
25	chr7:108210006-108210056	NHBE	bronchial:	n/a
26	chr7:108210006-108210056	HepG2	liver:	n/a
27	chr7:108210006-108210056	SK-N-MC	brain:	n/a
28	chr7:108210006-108210056	GM06990	blood:	n/a
29	chr7:108210006-108210056	HUVEC	blood vessel:	n/a
30	chr7:108210006-108210056	GM19239	blood:	n/a
31	chr7:108210006-108210056	Hela-S3	cervix:	n/a
32	chr7:108210006-108210056	A549	lung:	n/a
33	chr7:108210006-108210056	PFSK-1	brain:	n/a
34	chr7:108210006-108210056	NHDF-neo	bronchial:	n/a
35	chr7:108210006-108210056	Caco-2	colon:	n/a
36	chr7:108210006-108210056	SAEC	small airway:	n/a
37	chr7:108210006-108210056	CMK	blood:	n/a
38	chr7:108210006-108210056	HCM	heart:	n/a
39	chr7:108210006-108210056	PANC-1	pancreas:	n/a
40	chr7:108210006-108210056	NB4	blood:	n/a
41	chr7:108210006-108210056	LNCaP	prostate:	n/a
42	chr7:108210006-108210056	GM12878	blood:	n/a
43	chr7:108210006-108210056	GM12892	blood:	n/a
44	chr7:108210006-108210056	HCPEpiC	choroid plexus:	n/a
45	chr7:108210006-108210056	HRCEpiC	kidney:	n/a
46	chr7:108210006-108210056	BJ	skin:	n/a
47	chr7:108210006-108210056	NH-A	brain:	n/a
48	chr7:108210006-108210056	AG04450	lung:	fetal
49	chr7:108210006-108210056	MCF10A-Er-Src	breast:	n/a
50	chr7:108210006-108210056	RPTEC	kidney:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:27091070..27091613-chr7:108209720..108210412,2	Hela-S3	cervix:
2	chr1:59165232..59165758-chr7:108209768..108210379,2	Hela-S3	cervix:
3	chr7:108209770..108211889-chr7:108236149..108239310,3	K562	blood:
4	chr2:88991033..88991701-chr7:108209613..108210220,2	Hela-S3	cervix:
5	chr7:108164038..108167949-chr7:108208349..108211666,8	MCF-7	breast:
6	chr11:10829071..10829946-chr7:108209878..108210660,2	Hela-S3	cervix:
7	chr7:107383523..107385849-chr7:108208781..108210517,2	K562	blood:
8	chr17:56735024..56736952-chr7:108209393..108212263,2	MCF-7	breast:
9	chr7:108210007..108210707-chrX:49126016..49126845,2	Hela-S3	cervix:
10	chr7:108209606..108210312-chr9:130213295..130213863,2	Hela-S3	cervix:
11	chr7:108163122..108173185-chr7:108207236..108216619,40	K562	blood:
12	chr11:62608987..62609720-chr7:108209654..108210173,2	Hela-S3	cervix:
13	chr17:62971297..62972183-chr7:108209947..108210840,2	Hela-S3	cervix:
14	chr7:108159403..108171484-chr7:108200740..108214365,45	K562	blood:
15	chr7:108208069..108211100-chr7:112089167..112092388,3	K562	blood:
16	chr1:45987399..45988001-chr7:108209389..108210290,2	NB4	blood:
17	chr7:108162967..108170259-chr7:108208242..108216228,25	MCF-7	breast:
18	chr7:108209600..108213665-chr7:112090307..112092525,3	K562	blood:

No data

Variant related genes	Relation type
DNAJB9	TF binding region
THAP5	TF binding region
THAP5	CpG island
DNAJB9	CpG island
ENSG00000197958	Chromatin interaction
ENSG00000006652	Chromatin interaction
ENSG00000153574	Chromatin interaction
ENSG00000110321	Chromatin interaction
ENSG00000214174	Chromatin interaction
ENSG00000064102	Chromatin interaction
ENSG00000105879	Chromatin interaction
ENSG00000117450	Chromatin interaction
ENSG00000111790	Chromatin interaction
ENSG00000135241	Chromatin interaction
ENSG00000241764	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000162601	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000049769	Chromatin interaction
ENSG00000148356	Chromatin interaction
ENSG00000225647	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73428112	0.83[AFR][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	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	nsv817371	chr7:108199882-108649799	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 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	chr7:108207400-108213400	Active TSS	GM12878-XiMat	blood
2	chr7:108207600-108212000	Active TSS	K562	blood
3	chr7:108208400-108211400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:108208400-108211800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:108208400-108212000	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr7:108208600-108211200	Active TSS	Brain Germinal Matrix	brain
7	chr7:108208600-108211400	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr7:108208600-108211400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:108208600-108211600	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr7:108208600-108211800	Active TSS	NHDF-Ad	bronchial
11	chr7:108208600-108211800	Active TSS	NHLF	lung
12	chr7:108208600-108212000	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr7:108208600-108212400	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr7:108208800-108211200	Active TSS	Muscle Satellite Cultured Cells	--
15	chr7:108208800-108211200	Active TSS	Brain Cingulate Gyrus	brain
16	chr7:108208800-108211400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr7:108208800-108211400	Active TSS	Pancreas	Pancrea
18	chr7:108208800-108211600	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr7:108208800-108211600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:108208800-108211600	Active TSS	HSMM	muscle
21	chr7:108208800-108211800	Active TSS	H1 Cell Line	embryonic stem cell
22	chr7:108208800-108211800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:108208800-108211800	Active TSS	Placenta	Placenta
24	chr7:108208800-108212200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:108208800-108212200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:108208800-108212400	Active TSS	Right Ventricle	heart
27	chr7:108209000-108211200	Active TSS	Brain Substantia Nigra	brain
28	chr7:108209000-108211200	Active TSS	NHEK	skin
29	chr7:108209000-108211400	Active TSS	Placenta Amnion	Placenta Amnion
30	chr7:108209000-108211400	Active TSS	A549	lung
31	chr7:108209000-108211600	Active TSS	Liver	Liver
32	chr7:108209000-108211600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr7:108209000-108211600	Active TSS	HSMMtube	muscle
34	chr7:108209000-108211800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:108209000-108211800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:108209000-108211800	Active TSS	Fetal Kidney	kidney
37	chr7:108209200-108210200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
38	chr7:108209200-108211400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr7:108209200-108211400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr7:108209200-108211400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr7:108209200-108211400	Active TSS	Aorta	Aorta
42	chr7:108209200-108211400	Active TSS	Colonic Mucosa	Colon
43	chr7:108209200-108211400	Active TSS	Fetal Muscle Trunk	muscle
44	chr7:108209200-108211400	Active TSS	Left Ventricle	heart
45	chr7:108209200-108211400	Active TSS	Ovary	ovary
46	chr7:108209200-108211600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:108209200-108211600	Active TSS	Fetal Muscle Leg	muscle
48	chr7:108209200-108212000	Active TSS	Fetal Intestine Large	intestine
49	chr7:108209200-108212200	Active TSS	Psoas Muscle	Psoas
50	chr7:108209400-108210400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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