Variant report

Variant	rs13235951
Chromosome Location	chr7:100087459-100087460
allele	C/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	POLR2A	chr7:100087428-100087856	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr7:100087310-100087982	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr7:100087442-100088202	Hela-S3	cervix:	n/a	n/a
4	RAD21	chr7:100087413-100087926	SK-N-SH_RA	brain:	n/a	chr7:100087753-100087767
5	RCOR1	chr7:100087440-100087889	K562	blood:	n/a	n/a
6	SIN3A	chr7:100087433-100087869	H1-hESC	embryonic stem cell:	n/a	n/a
7	MXI1	chr7:100086829-100088273	SK-N-SH	brain:	n/a	chr7:100087621-100087636 chr7:100087623-100087638
8	EP300	chr7:100087402-100087813	SK-N-SH_RA	brain:	n/a	n/a
9	RFX5	chr7:100087316-100087947	IMR90	lung:	n/a	chr7:100087621-100087638 chr7:100087619-100087634 chr7:100087677-100087691 chr7:100087622-100087637 chr7:100087622-100087637 chr7:100087676-100087689 chr7:100087627-100087636 chr7:100087675-100087689 chr7:100087622-100087637 chr7:100087675-100087688 chr7:100087674-100087690 chr7:100087625-100087639 chr7:100087679-100087688
10	SIN3AK20	chr7:100087410-100087915	SK-N-SH	brain:	n/a	n/a
11	RFX5	chr7:100086838-100088308	SK-N-SH	brain:	n/a	chr7:100087621-100087638 chr7:100087619-100087634 chr7:100087677-100087691 chr7:100087622-100087637 chr7:100087622-100087637 chr7:100087676-100087689 chr7:100087627-100087636 chr7:100087675-100087689 chr7:100087622-100087637 chr7:100087675-100087688 chr7:100087674-100087690 chr7:100087625-100087639 chr7:100087679-100087688
12	ELF1	chr7:100087396-100087796	K562	blood:	n/a	n/a
13	POLR2A	chr7:100087414-100087963	H1-neurons	neurons:	n/a	n/a
14	TCF12	chr7:100087450-100087664	GM12878	blood:	n/a	chr7:100087558-100087568
15	REST	chr7:100087205-100088209	H1-neurons	neurons:	n/a	chr7:100087521-100087530
16	ELF1	chr7:100087439-100087831	K562	blood:	n/a	n/a
17	NRF1	chr7:100087319-100088024	SK-N-SH	brain:	n/a	chr7:100087581-100087592
18	ELF1	chr7:100087385-100087886	GM12878	blood:	n/a	n/a
19	POLR2A	chr7:100087304-100088345	H1-neurons	neurons:	n/a	n/a
20	RFX5	chr7:100087445-100087800	HepG2	liver:	n/a	chr7:100087621-100087638 chr7:100087619-100087634 chr7:100087677-100087691 chr7:100087622-100087637 chr7:100087622-100087637 chr7:100087676-100087689 chr7:100087627-100087636 chr7:100087675-100087689 chr7:100087622-100087637 chr7:100087675-100087688 chr7:100087674-100087690 chr7:100087625-100087639 chr7:100087679-100087688
21	MAZ	chr7:100087220-100088134	IMR90	lung:	n/a	chr7:100087627-100087636 chr7:100087623-100087632
22	GABPA	chr7:100087387-100087893	K562	blood:	n/a	n/a
23	NRF1	chr7:100087447-100087729	K562	blood:	n/a	chr7:100087581-100087592
24	EP300	chr7:100087447-100087843	SK-N-SH_RA	brain:	n/a	n/a
25	REST	chr7:100087372-100088065	H1-neurons	neurons:	n/a	chr7:100087521-100087530
26	SP1	chr7:100087449-100087882	H1-hESC	embryonic stem cell:	n/a	chr7:100087539-100087548 chr7:100087738-100087752
27	MXI1	chr7:100087386-100088003	IMR90	lung:	n/a	chr7:100087621-100087636 chr7:100087623-100087638

No.	Distal block	Cell Line	Cell type
1	chr7:100025632..100029543-chr7:100084589..100087636,3	K562	blood:
2	chr7:100085497..100087829-chr7:100134987..100138468,3	K562	blood:
3	chr7:100085384..100087829-chr7:100134919..100137463,3	K562	blood:
4	chr7:100080163..100084843-chr7:100085212..100090254,7	MCF-7	breast:
5	chr7:100085482..100087607-chr7:100090109..100092006,2	K562	blood:
6	chr7:100076601..100078183-chr7:100085535..100087703,2	MCF-7	breast:
7	chr7:100079431..100084153-chr7:100084209..100089579,10	K562	blood:
8	chr7:100033802..100035674-chr7:100086776..100088609,2	MCF-7	breast:
9	chr7:100086065..100087600-chr7:100131008..100132549,2	K562	blood:

Variant related genes	Relation type
NYAP1	TF binding region
ENSG00000078487	Chromatin interaction
ENSG00000240211	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000166924	Chromatin interaction
ENSG00000106351	Chromatin interaction
ENSG00000266372	Chromatin interaction
ENSG00000160813	Chromatin interaction
ENSG00000166925	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs13228694	1.00[AFR][1000 genomes]
rs34183059	0.83[AMR][1000 genomes]
rs35146386	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
2	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
3	nsv831071	chr7:99918025-100113413	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	287 gene(s)	inside rSNPs	diseases
4	nsv888776	chr7:100014711-100198386	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
5	nsv888777	chr7:100014711-100221867	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
6	nsv888778	chr7:100014711-100236593	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
7	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
8	nsv888780	chr7:100032665-100198386	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
9	nsv527050	chr7:100056166-100125975	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv888781	chr7:100060928-100097895	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv888782	chr7:100064719-100236593	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
12	nsv888783	chr7:100073292-100136241	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
13	nsv888784	chr7:100076614-100097895	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100081000-100090600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr7:100081800-100091000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:100081800-100091000	Weak transcription	Right Atrium	heart
4	chr7:100082000-100090800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:100082200-100090600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr7:100082400-100088800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:100082600-100090400	Weak transcription	Stomach Mucosa	stomach
8	chr7:100082600-100090800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr7:100082600-100091000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr7:100082600-100091600	Weak transcription	Fetal Kidney	kidney
11	chr7:100083200-100091000	Weak transcription	Esophagus	oesophagus
12	chr7:100083600-100088200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:100083600-100090600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:100083600-100090800	Weak transcription	Right Ventricle	heart
15	chr7:100083600-100091000	Weak transcription	Fetal Lung	lung
16	chr7:100083600-100091000	Weak transcription	NHDF-Ad	bronchial
17	chr7:100083600-100100800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:100084000-100091200	Weak transcription	Spleen	Spleen
19	chr7:100084200-100090400	Weak transcription	Adipose Nuclei	Adipose
20	chr7:100084400-100089200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr7:100084800-100088000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr7:100085000-100088000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:100085000-100091000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:100085200-100090000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr7:100085200-100090800	Weak transcription	K562	blood
26	chr7:100085600-100088000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr7:100085600-100098000	Weak transcription	Hela-S3	cervix
28	chr7:100086000-100088600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:100086200-100088600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr7:100086200-100089200	Enhancers	Fetal Brain Male	brain
31	chr7:100086600-100087600	Enhancers	Brain Angular Gyrus	brain
32	chr7:100086600-100087800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:100086800-100087600	Enhancers	Primary T cells from cord blood	blood
34	chr7:100086800-100087600	Enhancers	Brain Cingulate Gyrus	brain
35	chr7:100086800-100087800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:100086800-100087800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
37	chr7:100086800-100087800	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr7:100086800-100088000	Enhancers	Fetal Muscle Trunk	muscle
39	chr7:100086800-100088400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr7:100086800-100088400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:100086800-100088400	Genic enhancers	Fetal Stomach	stomach
42	chr7:100086800-100088600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:100086800-100088600	Enhancers	Fetal Intestine Large	intestine
44	chr7:100086800-100088600	Enhancers	Fetal Thymus	thymus
45	chr7:100087000-100087600	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr7:100087000-100087600	Enhancers	GM12878-XiMat	blood
47	chr7:100087000-100088000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:100087000-100088000	Flanking Active TSS	Fetal Brain Female	brain
49	chr7:100087000-100088000	Enhancers	Placenta	Placenta
50	chr7:100087000-100088200	Enhancers	H1 Cell Line	embryonic stem cell

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