Variant report

Variant	rs6847716
Chromosome Location	chr4:76861137-76861138
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:154)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:154 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:76861116-76861459	HepG2	liver:	n/a	n/a
2	RCOR1	chr4:76860878-76861224	K562	blood:	n/a	n/a
3	POLR2A	chr4:76860729-76862379	GM12892	blood:	n/a	n/a
4	RUNX3	chr4:76861091-76861350	GM12878	blood:	n/a	n/a
5	NR2F2	chr4:76860929-76862406	MCF-7	breast:	n/a	n/a
6	E2F6	chr4:76861014-76861559	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr4:76860875-76861584	MCF-7	breast:	n/a	n/a
8	STAT5A	chr4:76861112-76861397	GM12878	blood:	n/a	n/a
9	MXI1	chr4:76860858-76862599	IMR90	lung:	n/a	n/a
10	MAX	chr4:76860853-76862432	HepG2	liver:	n/a	n/a
11	POLR2A	chr4:76861025-76861526	ECC-1	luminal epithelium:	n/a	n/a
12	MYC	chr4:76860970-76862320	K562	blood:	n/a	n/a
13	MAX	chr4:76860862-76862474	MCF-7	breast:	n/a	n/a
14	SPI1	chr4:76860866-76861142	K562	blood:	n/a	n/a
15	POLR2A	chr4:76860996-76862279	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr4:76861077-76861464	ECC-1	luminal epithelium:	n/a	n/a
17	MAX	chr4:76861122-76861433	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr4:76860955-76861559	GM10847	blood:	n/a	n/a
19	POLR2A	chr4:76860943-76862413	GM19193	blood:	n/a	n/a
20	E2F6	chr4:76860846-76861515	H1-hESC	embryonic stem cell:	n/a	n/a
21	JUND	chr4:76860868-76861404	K562	blood:	n/a	n/a
22	POLR2A	chr4:76860895-76861474	GM12891	blood:	n/a	n/a
23	MAX	chr4:76860764-76862553	HCT-116	colon:	n/a	n/a
24	UBTF	chr4:76860968-76861458	K562	blood:	n/a	n/a
25	TEAD4	chr4:76860868-76861272	K562	blood:	n/a	n/a
26	POLR2A	chr4:76860900-76862382	GM18951	blood:	n/a	n/a
27	POLR2A	chr4:76860905-76862315	GM19099	blood:	n/a	n/a
28	POLR2A	chr4:76860793-76862484	PFSK-1	brain:	n/a	n/a
29	POLR2A	chr4:76861070-76862374	A549	lung:	n/a	n/a
30	POLR2A	chr4:76861100-76861599	A549	lung:	n/a	n/a
31	POLR2A	chr4:76860856-76861470	GM12892	blood:	n/a	n/a
32	CCNT2	chr4:76861044-76862433	K562	blood:	n/a	n/a
33	MAFF	chr4:76861046-76861142	HepG2	liver:	n/a	n/a
34	YY1	chr4:76860959-76861475	HepG2	liver:	n/a	n/a
35	ELF1	chr4:76860827-76862481	GM12878	blood:	n/a	n/a
36	POLR2A	chr4:76860887-76862457	K562	blood:	n/a	n/a
37	SPI1	chr4:76860874-76861141	GM12878	blood:	n/a	n/a
38	POLR2A	chr4:76860842-76862484	HL-60	blood:	n/a	n/a
39	CHD2	chr4:76861027-76862064	HepG2	liver:	n/a	n/a
40	POLR2A	chr4:76861092-76861575	U87	brain:	n/a	n/a
41	POLR2A	chr4:76860912-76862285	GM18526	blood:	n/a	n/a
42	HDAC2	chr4:76860870-76862421	MCF-7	breast:	n/a	n/a
43	POLR2A	chr4:76860891-76862447	MCF-7	breast:	n/a	n/a
44	MYC	chr4:76860909-76862380	NB4	blood:	n/a	n/a
45	MAX	chr4:76860768-76862539	A549	lung:	n/a	n/a
46	SMARCB1	chr4:76861007-76862340	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr4:76860980-76861466	HUVEC	blood vessel:	n/a	n/a
48	MAX	chr4:76860876-76862321	NB4	blood:	n/a	n/a
49	POLR2A	chr4:76860890-76862482	GM12892	blood:	n/a	n/a
50	CTCF	chr4:76861100-76861250	AG04449	skin:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:76861103-76861153	GM12891	blood:	n/a
2	chr4:76861103-76861153	NT2-D1	testis:	n/a
3	chr4:76861103-76861153	HCT-116	colon:	n/a
4	chr4:76861103-76861153	GM06990	blood:	n/a
5	chr4:76861103-76861153	GM12878	blood:	n/a
6	chr4:76861103-76861153	NHBE	bronchial:	n/a
7	chr4:76861103-76861153	AG10803	skin:	n/a
8	chr4:76861103-76861153	HEK293	kidney:	embryo
9	chr4:76861103-76861153	Caco-2	colon:	n/a
10	chr4:76861103-76861153	HUVEC	blood vessel:	n/a
11	chr4:76861103-76861153	K562	blood:	n/a
12	chr4:76861103-76861153	SAEC	small airway:	n/a
13	chr4:76861103-76861153	PFSK-1	brain:	n/a
14	chr4:76861103-76861153	AG09319	gingival:	n/a
15	chr4:76861103-76861153	HPAEpiC	pulmonary alveolar:	n/a
16	chr4:76861103-76861153	Jurkat	blood:	n/a
17	chr4:76861103-76861153	H1-hESC	embryonic stem cell:	embryo
18	chr4:76861103-76861153	BJ	skin:	n/a
19	chr4:76861103-76861153	PrEC	prostate:	n/a
20	chr4:76861103-76861153	AG09309	skin:	n/a
21	chr4:76861103-76861153	GM12892	blood:	n/a
22	chr4:76861103-76861153	ovcar-3	ovarian:	n/a
23	chr4:76861103-76861153	SKMC	muscle:	n/a
24	chr4:76861103-76861153	HCPEpiC	choroid plexus:	n/a
25	chr4:76861103-76861153	SK-N-SH_RA	brain:	n/a
26	chr4:76861103-76861153	HRE	kidney:	n/a
27	chr4:76861103-76861153	NB4	blood:	n/a
28	chr4:76861103-76861153	SK-N-MC	brain:	n/a
29	chr4:76861103-76861153	HIPEpiC	eye:	n/a
30	chr4:76861103-76861153	GM19239	blood:	n/a
31	chr4:76861103-76861153	HNPCEpiC	eye:	n/a
32	chr4:76861103-76861153	AoSMC	blood vessel:	n/a
33	chr4:76861103-76861153	AG04450	lung:	fetal
34	chr4:76861103-76861153	RPTEC	kidney:	n/a
35	chr4:76861103-76861153	MCF-7	breast:	n/a
36	chr4:76861103-76861153	AG04449	skin:	fetal
37	chr4:76861103-76861153	HCF	heart:	n/a
38	chr4:76861103-76861153	U87	brain:	n/a
39	chr4:76861103-76861153	MCF10A-Er-Src	breast:	n/a
40	chr4:76861103-76861153	HMEC	breast:	n/a
41	chr4:76861103-76861153	PANC-1	pancreas:	n/a
42	chr4:76861103-76861153	Hepatocyte	liver:	n/a
43	chr4:76861103-76861153	HRCEpiC	kidney:	n/a
44	chr4:76861103-76861153	IMR90	lung:	fetal
45	chr4:76861103-76861153	NH-A	brain:	n/a
46	chr4:76861103-76861153	HepG2	liver:	n/a
47	chr4:76861103-76861153	BE2_C	brain:	n/a
48	chr4:76861103-76861153	SK-N-SH	brain:	n/a
49	chr4:76861103-76861153	Hela-S3	cervix:	n/a
50	chr4:76861103-76861153	HCM	heart:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:76597293..76598968-chr4:76860443..76862946,2	K562	blood:
2	chr4:76860116..76861672-chr4:77068138..77069757,2	MCF-7	breast:
3	chr4:76860117..76861999-chr4:76911234..76914144,3	K562	blood:
4	chr4:76857067..76859381-chr4:76860422..76862398,2	K562	blood:
5	chr4:76859621..76862443-chr4:76895909..76899158,3	K562	blood:

No data

Variant related genes	Relation type
NAAA	TF binding region
NAAA	CpG island
ENSG00000138744	Chromatin interaction
ENSG00000138750	Chromatin interaction
ENSG00000138757	Chromatin interaction
ENSG00000198301	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10222911	1.00[ASN][1000 genomes]
rs1050176	0.97[ASN][1000 genomes]
rs10856871	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097192	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12500200	0.97[ASN][1000 genomes]
rs12511861	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1554015	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17001275	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17001284	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1910907	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2869461	0.97[ASN][1000 genomes]
rs28703679	1.00[ASN][1000 genomes]
rs3733236	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4859412	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55964684	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs56039229	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs56105413	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56316945	0.85[ASN][1000 genomes]
rs58909712	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61279846	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6532084	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66477189	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67210456	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67297326	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67413521	0.85[ASN][1000 genomes]
rs67687266	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6828744	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6834291	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6857358	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72651379	0.88[EUR][1000 genomes]
rs72651387	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7349626	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7670156	0.97[ASN][1000 genomes]
rs7671125	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7696286	0.96[EUR][1000 genomes];1.00[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	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats 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	51 gene(s)	inside rSNPs	diseases
2	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1004627	chr4:76793910-76999584	Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6847716	ASAHL	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76860400-76862600	Active TSS	A549	lung
2	chr4:76860600-76861200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
3	chr4:76860600-76861400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr4:76860600-76861400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:76860600-76861800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:76860600-76862000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:76860600-76862400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:76860600-76862600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr4:76860600-76862600	Active TSS	Colonic Mucosa	Colon
10	chr4:76860600-76862600	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr4:76860600-76862600	Active TSS	Rectal Smooth Muscle	rectum
12	chr4:76860800-76861200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:76860800-76861200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:76860800-76861200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
15	chr4:76860800-76861200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:76860800-76861200	Flanking Active TSS	Fetal Muscle Trunk	muscle
17	chr4:76860800-76861200	Flanking Active TSS	Fetal Muscle Leg	muscle
18	chr4:76860800-76861200	Active TSS	Right Atrium	heart
19	chr4:76860800-76861200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr4:76860800-76861200	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr4:76860800-76861200	Flanking Active TSS	HSMM	muscle
22	chr4:76860800-76861200	Flanking Active TSS	Osteobl	bone
23	chr4:76860800-76861400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
24	chr4:76860800-76861400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
25	chr4:76860800-76861400	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr4:76860800-76861400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:76860800-76861400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr4:76860800-76861400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr4:76860800-76861400	Flanking Active TSS	Liver	Liver
30	chr4:76860800-76861400	Flanking Active TSS	Fetal Thymus	thymus
31	chr4:76860800-76861400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr4:76860800-76861400	Flanking Active TSS	HUVEC	blood vessel
33	chr4:76860800-76861600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr4:76860800-76862000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
35	chr4:76860800-76862000	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr4:76860800-76862000	Active TSS	Fetal Heart	heart
37	chr4:76860800-76862000	Active TSS	Fetal Kidney	kidney
38	chr4:76860800-76862000	Active TSS	Fetal Lung	lung
39	chr4:76860800-76862000	Flanking Active TSS	HMEC	breast
40	chr4:76860800-76862200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr4:76860800-76862200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr4:76860800-76862200	Active TSS	Placenta Amnion	Placenta Amnion
43	chr4:76860800-76862200	Active TSS	NHDF-Ad	bronchial
44	chr4:76860800-76862400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr4:76860800-76862400	Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr4:76860800-76862400	Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr4:76860800-76862400	Active TSS	Brain Angular Gyrus	brain
48	chr4:76860800-76862400	Active TSS	Esophagus	oesophagus
49	chr4:76860800-76862400	Active TSS	Fetal Brain Female	brain
50	chr4:76860800-76862400	Active TSS	Ovary	ovary

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