Variant report

Variant	rs6963345
Chromosome Location	chr7:99618606-99618607
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:99618314..99620224-chr7:99678750..99680788,2	MCF-7	breast:
2	chr7:99616524..99619632-chr7:99677690..99679745,3	K562	blood:
3	chr7:99617125..99619542-chr7:99633323..99635330,2	K562	blood:

Variant related genes	Relation type
ENSG00000166526	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11558475	0.82[ASN][1000 genomes]
rs11558476	0.82[ASN][1000 genomes]
rs11770546	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12267	0.86[ASN][1000 genomes]
rs12531809	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12673441	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.84[MKK][hapmap];0.94[ASN][1000 genomes]
rs13238380	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2261360	1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs2897075	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35228488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727443	0.81[CEU][hapmap]
rs4727444	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4727445	0.82[ASN][1000 genomes]
rs4729573	0.93[ASN][1000 genomes]
rs4729575	0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs60697181	0.82[ASN][1000 genomes]
rs67110214	0.83[ASN][1000 genomes]
rs68038211	0.82[ASN][1000 genomes]
rs6974373	0.81[CEU][hapmap]
rs72615157	0.82[ASN][1000 genomes]
rs72615158	0.82[ASN][1000 genomes]
rs72615159	0.94[ASN][1000 genomes]
rs73158411	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7780686	0.82[ASN][1000 genomes]
rs7803317	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:33 , 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	esv1828362	chr7:99530233-99628773	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	esv1830255	chr7:99544908-99626331	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
6	esv1825207	chr7:99552275-99625510	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	esv1829545	chr7:99553071-99626386	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	esv1825655	chr7:99554378-99626186	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	esv1828702	chr7:99554757-99624145	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
10	esv1831603	chr7:99554769-99624157	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
11	esv1826636	chr7:99563961-99618606	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
12	nsv433391	chr7:99563961-99618606	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
13	esv1831741	chr7:99563961-99626295	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
14	esv1826228	chr7:99564091-99625688	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
15	esv1830115	chr7:99564091-99625688	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
16	esv19900	chr7:99564133-99625411	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
17	esv1833207	chr7:99564276-99628466	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
18	esv1827474	chr7:99564291-99626186	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
19	esv32694	chr7:99565608-99629919	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
20	esv1831013	chr7:99566252-99621841	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
21	esv1828033	chr7:99566252-99634770	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
22	esv1830934	chr7:99566264-99624157	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
23	esv1828426	chr7:99566264-99626343	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
24	esv1827496	chr7:99566264-99634782	Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
25	esv1826730	chr7:99567455-99626295	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
26	esv1833435	chr7:99567455-99626295	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
27	esv1829558	chr7:99569394-99626331	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
28	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
29	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
30	esv1828823	chr7:99583219-99618606	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
31	esv1829649	chr7:99583219-99618606	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
32	esv1826763	chr7:99583219-99626295	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
33	esv1824630	chr7:99614770-99639445	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6963345	TRIM4	Cis_1M	lymphoblastoid	RTeQTL
rs6963345	PVRIG	Cis_1M	lymphoblastoid	RTeQTL
rs6963345	AP4M1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99614200-99620400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:99614200-99621200	Weak transcription	Aorta	Aorta
3	chr7:99614200-99639000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:99614400-99619400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:99614400-99620200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:99614400-99620400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:99614400-99620800	Weak transcription	Left Ventricle	heart
8	chr7:99614400-99628400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:99614600-99620200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr7:99614600-99620400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:99614600-99620400	Enhancers	Stomach Mucosa	stomach
12	chr7:99614600-99620800	Weak transcription	Right Ventricle	heart
13	chr7:99614600-99621200	Weak transcription	Psoas Muscle	Psoas
14	chr7:99614600-99628400	Weak transcription	Right Atrium	heart
15	chr7:99614800-99619000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr7:99614800-99619200	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr7:99614800-99619400	Weak transcription	Fetal Muscle Leg	muscle
18	chr7:99614800-99619400	Weak transcription	Thymus	Thymus
19	chr7:99614800-99620000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr7:99614800-99620000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr7:99614800-99620200	Weak transcription	HSMM	muscle
22	chr7:99614800-99620200	Weak transcription	NHDF-Ad	bronchial
23	chr7:99614800-99620600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:99615000-99632000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:99615200-99619000	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr7:99615200-99619200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:99615200-99619200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr7:99615200-99619200	Weak transcription	Primary B cells from cord blood	blood
29	chr7:99615200-99619400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr7:99615200-99620200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr7:99615200-99621000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr7:99615200-99621000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr7:99615200-99636400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:99615200-99637800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:99615400-99619000	Weak transcription	NHLF	lung
36	chr7:99615400-99619400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr7:99615400-99619600	Weak transcription	HSMMtube	muscle
38	chr7:99615400-99619600	Weak transcription	HUVEC	blood vessel
39	chr7:99615400-99619800	Weak transcription	HMEC	breast
40	chr7:99615400-99620000	Weak transcription	Fetal Kidney	kidney
41	chr7:99615400-99620600	Weak transcription	Primary B cells from peripheral blood	blood
42	chr7:99615400-99621000	Weak transcription	Fetal Brain Male	brain
43	chr7:99615400-99621000	Weak transcription	Small Intestine	intestine
44	chr7:99615400-99621400	Weak transcription	NH-A	brain
45	chr7:99615400-99626000	Weak transcription	Fetal Heart	heart
46	chr7:99615400-99639600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:99615600-99619000	Weak transcription	Fetal Lung	lung
48	chr7:99615600-99619800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:99615600-99620200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr7:99615600-99620800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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