Variant report

Variant	rs73163252
Chromosome Location	chr7:140104132-140104133
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr7:140103535-140104266	H1-hESC	embryonic stem cell:	n/a	n/a
2	TAF1	chr7:140103625-140104132	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZBTB7A	chr7:140104036-140104224	K562	blood:	n/a	n/a
4	POLR2A	chr7:140103645-140104164	HCT-116	colon:	n/a	n/a
5	POLR2A	chr7:140103588-140104200	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr7:140103565-140104240	H1-hESC	embryonic stem cell:	n/a	n/a
7	RCOR1	chr7:140104068-140104393	K562	blood:	n/a	n/a
8	POLR2A	chr7:140103632-140104197	HCT-116	colon:	n/a	n/a
9	ELF1	chr7:140103841-140104488	K562	blood:	n/a	n/a
10	GTF2F1	chr7:140103592-140104134	H1-hESC	embryonic stem cell:	n/a	n/a
11	ZEB1	chr7:140103554-140104265	HepG2	liver:	n/a	chr7:140103787-140103794
12	MAX	chr7:140103523-140104266	H1-hESC	embryonic stem cell:	n/a	n/a
13	ZEB1	chr7:140103369-140104447	HepG2	liver:	n/a	chr7:140103787-140103794
14	TBP	chr7:140103553-140104250	H1-hESC	embryonic stem cell:	n/a	n/a
15	ZNF143	chr7:140103630-140104158	H1-hESC	embryonic stem cell:	n/a	chr7:140103896-140103914 chr7:140103898-140103907 chr7:140103896-140103905 chr7:140103903-140103918
16	SIN3A	chr7:140103460-140104517	H1-hESC	embryonic stem cell:	n/a	n/a
17	SIN3AK20	chr7:140103665-140104224	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAZ	chr7:140103958-140104323	K562	blood:	n/a	n/a
19	MAX	chr7:140103593-140104196	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr7:140103774-140104145	MCF-7	breast:	n/a	n/a
21	YY1	chr7:140104094-140104273	K562	blood:	n/a	n/a
22	ELF1	chr7:140103531-140104496	MCF-7	breast:	n/a	n/a
23	ELK1	chr7:140104105-140104317	K562	blood:	n/a	n/a
24	POLR2A	chr7:140103645-140104156	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr7:140103722-140104223	H1-hESC	embryonic stem cell:	n/a	n/a
26	ELF1	chr7:140103585-140104236	GM12878	blood:	n/a	n/a
27	JUND	chr7:140103650-140104292	H1-hESC	embryonic stem cell:	n/a	n/a
28	ZEB1	chr7:140103629-140104183	GM12878	blood:	n/a	chr7:140103787-140103794
29	POLR2A	chr7:140103450-140104319	H1-hESC	embryonic stem cell:	n/a	n/a
30	YY1	chr7:140103527-140104222	H1-hESC	embryonic stem cell:	n/a	n/a
31	ELF1	chr7:140103560-140104453	MCF-7	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:140104086-140104136	HCT-116	colon:	n/a
2	chr7:140104086-140104136	AG04450	lung:	fetal
3	chr7:140104086-140104136	HRPEpiC	eye:	n/a
4	chr7:140104086-140104136	HCM	heart:	n/a
5	chr7:140104086-140104136	PANC-1	pancreas:	n/a
6	chr7:140104086-140104136	MCF-7	breast:	n/a
7	chr7:140104086-140104136	AG09319	gingival:	n/a
8	chr7:140104086-140104136	GM12892	blood:	n/a
9	chr7:140104086-140104136	HCF	heart:	n/a
10	chr7:140104086-140104136	H1-hESC	embryonic stem cell:	embryo
11	chr7:140104086-140104136	HRCEpiC	kidney:	n/a
12	chr7:140104086-140104136	NB4	blood:	n/a
13	chr7:140104086-140104136	U87	brain:	n/a
14	chr7:140104086-140104136	GM06990	blood:	n/a
15	chr7:140104086-140104136	MCF10A-Er-Src	breast:	n/a
16	chr7:140104086-140104136	NHBE	bronchial:	n/a
17	chr7:140104086-140104136	HepG2	liver:	n/a
18	chr7:140104086-140104136	GM12891	blood:	n/a
19	chr7:140104086-140104136	AG09309	skin:	n/a
20	chr7:140104086-140104136	Caco-2	colon:	n/a
21	chr7:140104086-140104136	K562	blood:	n/a
22	chr7:140104086-140104136	ovcar-3	ovarian:	n/a
23	chr7:140104086-140104136	GM12878	blood:	n/a
24	chr7:140104086-140104136	CMK	blood:	n/a
25	chr7:140104086-140104136	AoSMC	blood vessel:	n/a
26	chr7:140104086-140104136	BE2_C	brain:	n/a
27	chr7:140104086-140104136	LNCaP	prostate:	n/a
28	chr7:140104086-140104136	A549	lung:	n/a
29	chr7:140104086-140104136	NT2-D1	testis:	n/a
30	chr7:140104086-140104136	HAEpiC	amniotic membrane:	n/a
31	chr7:140104086-140104136	NHDF-neo	bronchial:	n/a
32	chr7:140104086-140104136	Hepatocyte	liver:	n/a
33	chr7:140104086-140104136	RPTEC	kidney:	n/a
34	chr7:140104086-140104136	PFSK-1	brain:	n/a
35	chr7:140104086-140104136	HCPEpiC	choroid plexus:	n/a
36	chr7:140104086-140104136	HEK293	kidney:	embryo
37	chr7:140104086-140104136	SAEC	small airway:	n/a
38	chr7:140104086-140104136	AG10803	skin:	n/a
39	chr7:140104086-140104136	IMR90	lung:	fetal
40	chr7:140104086-140104136	PrEC	prostate:	n/a
41	chr7:140104086-140104136	HIPEpiC	eye:	n/a
42	chr7:140104086-140104136	SK-N-MC	brain:	n/a
43	chr7:140104086-140104136	ProgFib	skin:	n/a
44	chr7:140104086-140104136	HL-60	blood:	n/a
45	chr7:140104086-140104136	SK-N-SH_RA	brain:	n/a
46	chr7:140104086-140104136	HNPCEpiC	eye:	n/a
47	chr7:140104086-140104136	ECC-1	luminal epithelium:	n/a
48	chr7:140104086-140104136	SK-N-SH	brain:	n/a
49	chr7:140104086-140104136	HEEpiC	esophagus:	n/a
50	chr7:140104086-140104136	SKMC	muscle:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr7:140063593..140066561-chr7:140103123..140105495,2	MCF-7	breast:
2	chr7:140102606..140105072-chr7:140105892..140108161,2	K562	blood:
3	chr7:140097102..140100754-chr7:140100879..140105218,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC37A3-1	chr7:140103985-140104233	NONHSAT123678

No data

Variant related genes	Relation type
SLC37A3	TF binding region
RAB19	TF binding region
RAB19	CpG island
SLC37A3	CpG island
ENSG00000157800	Chromatin interaction
ENSG00000146955	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs73163244	1.00[ASN][1000 genomes]
rs73163257	1.00[ASN][1000 genomes]
rs73163266	1.00[ASN][1000 genomes]
rs73163274	1.00[ASN][1000 genomes]
rs73163296	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	nsv1022919	chr7:140043299-140120546	Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv2762706	chr7:140054170-140119629	Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv522190	chr7:140066411-140130663	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr7:140101400-140104600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr7:140103400-140104200	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr7:140103400-140104200	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr7:140103400-140104200	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr7:140103400-140104200	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr7:140103400-140104200	Active TSS	Primary T cells from cord blood	blood
7	chr7:140103400-140104200	Active TSS	Primary T killer memory cells from peripheral blood	blood
8	chr7:140103400-140104200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:140103400-140104200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
10	chr7:140103400-140104400	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr7:140103400-140104400	Active TSS	H9 Cell Line	embryonic stem cell
12	chr7:140103400-140104400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:140103400-140104400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr7:140103400-140104400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:140103400-140104400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:140103400-140104400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:140103400-140104400	Flanking Active TSS	Fetal Thymus	thymus
18	chr7:140103400-140104600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr7:140103400-140104600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
20	chr7:140103400-140104600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr7:140103400-140104600	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr7:140103400-140104600	Flanking Active TSS	HMEC	breast
23	chr7:140103400-140104800	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr7:140103400-140105000	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr7:140103600-140104200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:140103600-140104200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr7:140103600-140104200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:140103600-140104200	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr7:140103600-140104200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:140103600-140104200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
31	chr7:140103600-140104200	Flanking Active TSS	Primary B cells from peripheral blood	blood
32	chr7:140103600-140104200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr7:140103600-140104200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr7:140103600-140104200	Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr7:140103600-140104200	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
36	chr7:140103600-140104200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr7:140103600-140104200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
38	chr7:140103600-140104200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:140103600-140104200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:140103600-140104200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
41	chr7:140103600-140104200	Active TSS	Brain Anterior Caudate	brain
42	chr7:140103600-140104200	Active TSS	Brain Substantia Nigra	brain
43	chr7:140103600-140104200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
44	chr7:140103600-140104200	Active TSS	Fetal Kidney	kidney
45	chr7:140103600-140104200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
46	chr7:140103600-140104200	Flanking Active TSS	Placenta	Placenta
47	chr7:140103600-140104200	Enhancers	Left Ventricle	heart
48	chr7:140103600-140104200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
49	chr7:140103600-140104200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
50	chr7:140103600-140104200	Active TSS	Small Intestine	intestine

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