Variant report

Variant	rs35991721
Chromosome Location	chr7:99728790-99728791
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:99728720-99728870	GM12867	blood:	n/a	chr7:99728772-99728790 chr7:99728774-99728787 chr7:99728773-99728789
2	CTCF	chr7:99728700-99728850	AG04449	skin:	n/a	chr7:99728772-99728790 chr7:99728774-99728787 chr7:99728773-99728789
3	CTCF	chr7:99728700-99728850	Hela-S3	cervix:	n/a	chr7:99728772-99728790 chr7:99728774-99728787 chr7:99728773-99728789
4	CTCF	chr7:99728680-99728830	RPTEC	kidney:	n/a	chr7:99728772-99728790 chr7:99728774-99728787 chr7:99728773-99728789
5	MYC	chr7:99728389-99728887	K562	blood:	n/a	chr7:99728506-99728517 chr7:99728502-99728521 chr7:99728506-99728517 chr7:99728506-99728516 chr7:99728506-99728517 chr7:99728508-99728517 chr7:99728505-99728518 chr7:99728507-99728516 chr7:99728506-99728517 chr7:99728505-99728518 chr7:99728506-99728516 chr7:99728505-99728518
6	RAD21	chr7:99728524-99728933	SK-N-SH_RA	brain:	n/a	chr7:99728786-99728799 chr7:99728770-99728789
7	CTCF	chr7:99728582-99728873	K562	blood:	n/a	chr7:99728772-99728790 chr7:99728774-99728787 chr7:99728773-99728789
8	CTCF	chr7:99728562-99728992	GM12878	blood:	n/a	chr7:99728772-99728790 chr7:99728774-99728787 chr7:99728773-99728789
9	JUND	chr7:99728444-99728894	H1-hESC	embryonic stem cell:	n/a	n/a
10	FOXP2	chr7:99728593-99728847	SK-N-MC	brain:	n/a	n/a
11	CTCF	chr7:99728643-99728915	GM10266	blood:	n/a	chr7:99728772-99728790 chr7:99728774-99728787 chr7:99728773-99728789
12	CTCF	chr7:99728700-99728850	HRPEpiC	eye:	n/a	chr7:99728772-99728790 chr7:99728774-99728787 chr7:99728773-99728789
13	CTCF	chr7:99728700-99728850	HUVEC	blood vessel:	n/a	chr7:99728772-99728790 chr7:99728774-99728787 chr7:99728773-99728789
14	YY1	chr7:99728607-99728861	SK-N-SH_RA	brain:	n/a	chr7:99728773-99728787 chr7:99728714-99728725
15	RAD21	chr7:99728497-99728937	MCF-7	breast:	n/a	chr7:99728786-99728799 chr7:99728770-99728789
16	MYC	chr7:99728749-99728805	HepG2	liver:	n/a	n/a
17	CTCF	chr7:99728700-99728850	AG09319	gingival:	n/a	chr7:99728772-99728790 chr7:99728774-99728787 chr7:99728773-99728789
18	CTCF	chr7:99728700-99728850	BJ	skin:	n/a	chr7:99728772-99728790 chr7:99728774-99728787 chr7:99728773-99728789
19	CTCF	chr7:99728660-99728810	HVMF	connective:	n/a	chr7:99728772-99728790 chr7:99728774-99728787 chr7:99728773-99728789
20	E2F6	chr7:99728620-99728843	K562	blood:	n/a	chr7:99728770-99728777 chr7:99728770-99728781
21	CEBPB	chr7:99728105-99728866	K562	blood:	n/a	chr7:99728315-99728326
22	YY1	chr7:99728499-99728861	H1-hESC	embryonic stem cell:	n/a	chr7:99728773-99728787 chr7:99728714-99728725
23	RFX5	chr7:99728340-99728807	HepG2	liver:	n/a	n/a
24	ZNF143	chr7:99728568-99728922	H1-hESC	embryonic stem cell:	n/a	n/a
25	ELF1	chr7:99728612-99728842	K562	blood:	n/a	n/a
26	TEAD4	chr7:99728515-99728905	K562	blood:	n/a	n/a
27	CTCF	chr7:99728700-99728850	HRE	kidney:	n/a	chr7:99728772-99728790 chr7:99728774-99728787 chr7:99728773-99728789
28	ZBTB7A	chr7:99728494-99728829	K562	blood:	n/a	chr7:99728773-99728782
29	SMC3	chr7:99728521-99728955	Hela-S3	cervix:	n/a	chr7:99728774-99728788
30	CHD2	chr7:99728674-99728842	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr7:99728640-99728790	BE2_C	brain:	n/a	chr7:99728772-99728790 chr7:99728774-99728787 chr7:99728773-99728789
32	MAX	chr7:99728320-99728861	NB4	blood:	n/a	chr7:99728506-99728517 chr7:99728502-99728521 chr7:99728506-99728517 chr7:99728506-99728516 chr7:99728506-99728517 chr7:99728508-99728517 chr7:99728505-99728518 chr7:99728507-99728516 chr7:99728506-99728517 chr7:99728505-99728518 chr7:99728506-99728516 chr7:99728505-99728518
33	YY1	chr7:99728590-99728850	GM12892	blood:	n/a	chr7:99728773-99728787 chr7:99728714-99728725
34	CTCF	chr7:99728700-99728850	GM12874	blood:	n/a	chr7:99728772-99728790 chr7:99728774-99728787 chr7:99728773-99728789
35	CTCF	chr7:99728639-99728905	MCF-7	breast:	n/a	chr7:99728772-99728790 chr7:99728774-99728787 chr7:99728773-99728789
36	MYC	chr7:99728343-99728877	NB4	blood:	n/a	chr7:99728506-99728517 chr7:99728502-99728521 chr7:99728506-99728517 chr7:99728506-99728516 chr7:99728506-99728517 chr7:99728508-99728517 chr7:99728505-99728518 chr7:99728507-99728516 chr7:99728506-99728517 chr7:99728505-99728518 chr7:99728506-99728516 chr7:99728505-99728518
37	CTCF	chr7:99728670-99728861	T-47D	breast:	n/a	chr7:99728772-99728790 chr7:99728774-99728787 chr7:99728773-99728789
38	EP300	chr7:99728626-99728850	K562	blood:	n/a	chr7:99728786-99728802
39	CTCF	chr7:99728650-99728831	A549	lung:	n/a	chr7:99728772-99728790 chr7:99728774-99728787 chr7:99728773-99728789
40	CTCF	chr7:99728700-99728850	HepG2	liver:	n/a	chr7:99728772-99728790 chr7:99728774-99728787 chr7:99728773-99728789
41	CTCF	chr7:99728720-99728870	GM12873	blood:	n/a	chr7:99728772-99728790 chr7:99728774-99728787 chr7:99728773-99728789
42	RAD21	chr7:99728513-99728890	H1-hESC	embryonic stem cell:	n/a	chr7:99728786-99728799 chr7:99728770-99728789
43	CTCF	chr7:99728660-99728897	H1-hESC	embryonic stem cell:	n/a	chr7:99728772-99728790 chr7:99728774-99728787 chr7:99728773-99728789
44	BHLHE40	chr7:99728639-99728840	K562	blood:	n/a	n/a
45	CTCF	chr7:99728700-99728850	NHEK	skin:	n/a	chr7:99728772-99728790 chr7:99728774-99728787 chr7:99728773-99728789
46	TCF12	chr7:99728616-99728853	GM12878	blood:	n/a	n/a
47	CTCF	chr7:99728677-99728881	MCF-7	breast:	n/a	chr7:99728772-99728790 chr7:99728774-99728787 chr7:99728773-99728789
48	ARID3A	chr7:99728272-99728842	HepG2	liver:	n/a	n/a
49	RAD21	chr7:99728541-99728897	ECC-1	luminal epithelium:	n/a	chr7:99728786-99728799 chr7:99728770-99728789
50	E2F4	chr7:99728708-99728818	MCF10A-Er-Src	breast:	n/a	chr7:99728770-99728777 chr7:99728770-99728781

No.	Distal block	Cell Line	Cell type
1	chr7:99679511..99680258-chr7:99728046..99728823,2	MCF-7	breast:
2	chr7:99726058..99730231-chr7:99754511..99757895,5	MCF-7	breast:
3	chr7:99101618..99103832-chr7:99727282..99728826,2	K562	blood:
4	chr7:99727332..99729925-chr7:99816500..99818908,2	MCF-7	breast:
5	chr7:99679471..99680437-chr7:99728707..99729277,2	K562	blood:

Variant related genes	Relation type
ENSG00000242798	TF binding region
ENSG00000213413	Chromatin interaction
ENSG00000196652	Chromatin interaction
ENSG00000146826	Chromatin interaction
ENSG00000166526	Chromatin interaction
ENSG00000222482	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11505847	0.83[AMR][1000 genomes]
rs11771139	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1880949	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35146811	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4134903	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829865	chr7:99430678-99755141	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
2	esv1830649	chr7:99430678-99755141	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
3	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases
4	nsv469687	chr7:99572543-99755141	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases
5	nsv482601	chr7:99572543-99755141	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases
6	nsv607931	chr7:99664817-99796146	Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1097 gene(s)	inside rSNPs	diseases
7	esv1798486	chr7:99689883-99930879	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases
8	esv1833059	chr7:99689883-99930879	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35991721	PVRIG	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99726200-99730000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:99726400-99730400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:99726400-99730400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr7:99726400-99730400	Weak transcription	Spleen	Spleen
5	chr7:99728000-99728800	Enhancers	Fetal Thymus	thymus
6	chr7:99728000-99730400	Enhancers	Placenta	Placenta
7	chr7:99728200-99728800	Enhancers	Primary T cells from cord blood	blood
8	chr7:99728200-99728800	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr7:99728200-99728800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:99728200-99728800	Flanking Active TSS	Duodenum Mucosa	Duodenum
11	chr7:99728200-99728800	Enhancers	Esophagus	oesophagus
12	chr7:99728200-99728800	Enhancers	Fetal Intestine Large	intestine
13	chr7:99728200-99728800	Enhancers	Ovary	ovary
14	chr7:99728200-99728800	Enhancers	Pancreas	Pancrea
15	chr7:99728200-99728800	Enhancers	Psoas Muscle	Psoas
16	chr7:99728200-99728800	Enhancers	Stomach Mucosa	stomach
17	chr7:99728200-99728800	Enhancers	GM12878-XiMat	blood
18	chr7:99728200-99728800	Enhancers	NHEK	skin
19	chr7:99728200-99728800	Enhancers	NHLF	lung
20	chr7:99728200-99729200	Enhancers	Primary T cells fromperipheralblood	blood
21	chr7:99728200-99729200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr7:99728400-99728800	Active TSS	H9 Cell Line	embryonic stem cell
23	chr7:99728400-99728800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:99728400-99728800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:99728400-99728800	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr7:99728400-99728800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:99728400-99728800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:99728400-99728800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:99728400-99728800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr7:99728400-99728800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:99728400-99728800	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr7:99728400-99728800	Enhancers	Primary B cells from cord blood	blood
33	chr7:99728400-99728800	Enhancers	Primary B cells from peripheral blood	blood
34	chr7:99728400-99728800	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr7:99728400-99728800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr7:99728400-99728800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr7:99728400-99728800	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr7:99728400-99728800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr7:99728400-99728800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr7:99728400-99728800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr7:99728400-99728800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr7:99728400-99728800	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr7:99728400-99728800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:99728400-99728800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:99728400-99728800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:99728400-99728800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr7:99728400-99728800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:99728400-99728800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:99728400-99728800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:99728400-99728800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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