Variant report

Variant	rs62443315
Chromosome Location	chr7:38217967-38217968
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:399)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:399 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr7:38217544-38218438	HepG2	liver:	n/a	n/a
2	MAZ	chr7:38217637-38218340	Hela-S3	cervix:	n/a	chr7:38218254-38218263
3	MAZ	chr7:38217048-38219706	IMR90	lung:	n/a	chr7:38218254-38218263
4	NFIC	chr7:38217082-38218203	GM12878	blood:	n/a	n/a
5	ATF1	chr7:38217472-38218843	K562	blood:	n/a	chr7:38217842-38217856
6	REST	chr7:38217106-38218923	H1-neurons	neurons:	n/a	n/a
7	CTCF	chr7:38217960-38218110	GM12869	blood:	n/a	n/a
8	E2F6	chr7:38217304-38218044	H1-hESC	embryonic stem cell:	n/a	chr7:38217846-38217855 chr7:38217613-38217620 chr7:38217613-38217620 chr7:38217844-38217853 chr7:38217701-38217712 chr7:38217657-38217668 chr7:38217613-38217620
9	ELF1	chr7:38217384-38218293	K562	blood:	n/a	n/a
10	TAF1	chr7:38217367-38218042	SK-N-SH	brain:	n/a	n/a
11	PBX3	chr7:38217448-38217985	A549	lung:	n/a	chr7:38217733-38217753
12	MAX	chr7:38217348-38218252	K562	blood:	n/a	n/a
13	CREB1	chr7:38217420-38218350	K562	blood:	n/a	chr7:38217843-38217856
14	CTCF	chr7:38217920-38218070	GM12873	blood:	n/a	n/a
15	TBP	chr7:38217294-38218192	H1-hESC	embryonic stem cell:	n/a	n/a
16	ELF1	chr7:38217350-38218274	HepG2	liver:	n/a	n/a
17	CTCF	chr7:38217960-38218110	GM12878	blood:	n/a	n/a
18	MYC	chr7:38217464-38218350	MCF10A-Er-Src	breast:	n/a	chr7:38218254-38218263
19	USF1	chr7:38217435-38218349	SK-N-SH	brain:	n/a	n/a
20	STAT3	chr7:38217539-38218440	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr7:38217377-38218388	GM12891	blood:	n/a	n/a
22	POLR2A	chr7:38217251-38218311	GM12878	blood:	n/a	n/a
23	MAX	chr7:38217334-38218209	A549	lung:	n/a	n/a
24	POLR2A	chr7:38217331-38218330	Raji	blood:	n/a	n/a
25	POLR2A	chr7:38217290-38218431	K562	blood:	n/a	n/a
26	ZNF384	chr7:38217601-38218784	K562	blood:	n/a	n/a
27	RCOR1	chr7:38217408-38218354	HepG2	liver:	n/a	n/a
28	EP300	chr7:38217511-38218323	HepG2	liver:	n/a	chr7:38217869-38217885
29	HEY1	chr7:38217878-38218147	HepG2	liver:	n/a	n/a
30	CHD2	chr7:38217444-38218405	HepG2	liver:	n/a	n/a
31	RUNX3	chr7:38217266-38218690	GM12878	blood:	n/a	n/a
32	NFYA	chr7:38217255-38217991	K562	blood:	n/a	n/a
33	CTCF	chr7:38217960-38218110	GM12864	blood:	n/a	n/a
34	SMC3	chr7:38217471-38218182	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr7:38217337-38218354	A549	lung:	n/a	n/a
36	SIN3A	chr7:38217553-38218462	H1-hESC	embryonic stem cell:	n/a	n/a
37	TCF7L2	chr7:38217276-38218192	PANC-1	pancreas:	n/a	n/a
38	YY1	chr7:38217374-38218695	GM12878	blood:	n/a	n/a
39	CREB1	chr7:38217445-38218307	K562	blood:	n/a	chr7:38217843-38217856
40	ELF1	chr7:38217407-38218412	GM12878	blood:	n/a	n/a
41	TAF1	chr7:38217809-38218416	H1-neurons	neurons:	n/a	n/a
42	IRF1	chr7:38217413-38218297	K562	blood:	n/a	n/a
43	KAP1	chr7:38217484-38218436	U2OS	brain:	n/a	n/a
44	TBL1XR1	chr7:38217263-38218148	K562	blood:	n/a	n/a
45	REST	chr7:38217344-38218391	HL-60	blood:	n/a	n/a
46	POLR2A	chr7:38217376-38218178	HCT-116	colon:	n/a	n/a
47	SP1	chr7:38217268-38218220	A549	lung:	n/a	chr7:38218172-38218186 chr7:38218175-38218187
48	CTCF	chr7:38217960-38218110	HBMEC	blood vessel:	n/a	n/a
49	MTA3	chr7:38217085-38218860	GM12878	blood:	n/a	n/a
50	MAZ	chr7:38217383-38218387	HepG2	liver:	n/a	chr7:38218254-38218263

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:38217921-38217971	HNPCEpiC	eye:	n/a
2	chr7:38217921-38217971	NB4	blood:	n/a
3	chr7:38217921-38217971	SAEC	small airway:	n/a
4	chr7:38217921-38217971	NT2-D1	testis:	n/a
5	chr7:38217921-38217971	HCM	heart:	n/a
6	chr7:38217921-38217971	AG09319	gingival:	n/a
7	chr7:38217921-38217971	HIPEpiC	eye:	n/a
8	chr7:38217921-38217971	HAEpiC	amniotic membrane:	n/a
9	chr7:38217921-38217971	AG04449	skin:	fetal
10	chr7:38217921-38217971	SK-N-SH	brain:	n/a
11	chr7:38217921-38217971	NH-A	brain:	n/a
12	chr7:38217921-38217971	AG04450	lung:	fetal
13	chr7:38217921-38217971	BJ	skin:	n/a
14	chr7:38217921-38217971	HepG2	liver:	n/a
15	chr7:38217921-38217971	LNCaP	prostate:	n/a
16	chr7:38217921-38217971	AG10803	skin:	n/a
17	chr7:38217921-38217971	HCT-116	colon:	n/a
18	chr7:38217921-38217971	CMK	blood:	n/a
19	chr7:38217921-38217971	ProgFib	skin:	n/a
20	chr7:38217921-38217971	H1-hESC	embryonic stem cell:	embryo
21	chr7:38217921-38217971	SK-N-SH_RA	brain:	n/a
22	chr7:38217921-38217971	HMEC	breast:	n/a
23	chr7:38217921-38217971	PFSK-1	brain:	n/a
24	chr7:38217921-38217971	ECC-1	luminal epithelium:	n/a
25	chr7:38217921-38217971	HRE	kidney:	n/a
26	chr7:38217921-38217971	GM12878	blood:	n/a
27	chr7:38217921-38217971	AoSMC	blood vessel:	n/a
28	chr7:38217921-38217971	SK-N-MC	brain:	n/a
29	chr7:38217921-38217971	IMR90	lung:	fetal
30	chr7:38217921-38217971	K562	blood:	n/a
31	chr7:38217921-38217971	U87	brain:	n/a
32	chr7:38217921-38217971	PrEC	prostate:	n/a
33	chr7:38217921-38217971	HEK293	kidney:	embryo
34	chr7:38217921-38217971	A549	lung:	n/a
35	chr7:38217921-38217971	HCPEpiC	choroid plexus:	n/a
36	chr7:38217921-38217971	HRPEpiC	eye:	n/a
37	chr7:38217921-38217971	BE2_C	brain:	n/a
38	chr7:38217921-38217971	MCF10A-Er-Src	breast:	n/a
39	chr7:38217921-38217971	HCF	heart:	n/a
40	chr7:38217921-38217971	Caco-2	colon:	n/a
41	chr7:38217921-38217971	MCF-7	breast:	n/a
42	chr7:38217921-38217971	Hepatocyte	liver:	n/a
43	chr7:38217921-38217971	HPAEpiC	pulmonary alveolar:	n/a
44	chr7:38217921-38217971	NHDF-neo	bronchial:	n/a
45	chr7:38217921-38217971	GM06990	blood:	n/a
46	chr7:38217921-38217971	GM12891	blood:	n/a
47	chr7:38217921-38217971	AG09309	skin:	n/a
48	chr7:38217921-38217971	ovcar-3	ovarian:	n/a
49	chr7:38217921-38217971	Jurkat	blood:	n/a
50	chr7:38217921-38217971	GM19239	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:16840409..16841090-chr7:38217565..38218418,2	NB4	blood:
2	chr7:38217907..38218526-chr7:44613300..44613849,2	NB4	blood:

No data

Variant related genes	Relation type
STARD3NL	TF binding region
STARD3NL	CpG island
ENSG00000136271	Chromatin interaction
ENSG00000206652	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1014136	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10224886	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10234310	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10254082	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10282163	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10464362	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11766931	0.81[ASN][1000 genomes]
rs11773477	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12669726	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12670582	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17410426	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2270165	0.81[ASN][1000 genomes]
rs2392540	0.81[ASN][1000 genomes]
rs28664954	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3778894	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55915216	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56147907	0.81[ASN][1000 genomes]
rs56228793	0.80[ASN][1000 genomes]
rs60713125	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62443299	0.89[ASN][1000 genomes]
rs9638935	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9639788	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9986766	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016355	chr7:38168232-38372719	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv830963	chr7:38172988-38344779	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv2762664	chr7:38201814-38228480	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 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	chr7:38216800-38218600	Active TSS	Fetal Kidney	kidney
2	chr7:38216800-38218800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:38217000-38218600	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr7:38217000-38218600	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr7:38217000-38218600	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr7:38217000-38218600	Active TSS	Fetal Brain Male	brain
7	chr7:38217000-38218800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:38217000-38218800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:38217000-38218800	Active TSS	Brain Angular Gyrus	brain
10	chr7:38217000-38218800	Active TSS	Fetal Brain Female	brain
11	chr7:38217000-38219200	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr7:38217000-38219400	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr7:38217000-38219400	Active TSS	GM12878-XiMat	blood
14	chr7:38217000-38219600	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr7:38217000-38219800	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr7:38217200-38218000	Active TSS	Primary B cells from cord blood	blood
17	chr7:38217200-38218000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:38217200-38218200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr7:38217200-38218200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:38217200-38218400	Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr7:38217200-38218600	Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr7:38217200-38218600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
23	chr7:38217200-38218600	Active TSS	Liver	Liver
24	chr7:38217200-38218600	Active TSS	Brain Anterior Caudate	brain
25	chr7:38217200-38218600	Active TSS	Brain Cingulate Gyrus	brain
26	chr7:38217200-38218600	Active TSS	Brain Hippocampus Middle	brain
27	chr7:38217200-38218600	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr7:38217200-38218600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr7:38217200-38218600	Active TSS	Brain Substantia Nigra	brain
30	chr7:38217200-38218600	Active TSS	Colonic Mucosa	Colon
31	chr7:38217200-38218600	Active TSS	Fetal Intestine Small	intestine
32	chr7:38217200-38218600	Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr7:38217200-38218600	Active TSS	Thymus	Thymus
34	chr7:38217200-38218600	Bivalent/Poised TSS	HepG2	liver
35	chr7:38217200-38218600	Active TSS	HUVEC	blood vessel
36	chr7:38217200-38218600	Active TSS	NHEK	skin
37	chr7:38217200-38218800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr7:38217200-38218800	Active TSS	H1 Cell Line	embryonic stem cell
39	chr7:38217200-38218800	Active TSS	H9 Cell Line	embryonic stem cell
40	chr7:38217200-38218800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr7:38217200-38218800	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr7:38217200-38218800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr7:38217200-38218800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr7:38217200-38218800	Active TSS	Primary T cells fromperipheralblood	blood
45	chr7:38217200-38218800	Active TSS	Fetal Lung	lung
46	chr7:38217200-38218800	Active TSS	Fetal Muscle Trunk	muscle
47	chr7:38217200-38218800	Active TSS	Fetal Stomach	stomach
48	chr7:38217200-38218800	Active TSS	Fetal Thymus	thymus
49	chr7:38217200-38218800	Active TSS	Psoas Muscle	Psoas
50	chr7:38217200-38218800	Active TSS	Skeletal Muscle Male	skeletal muscle

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