Variant report

Variant	rs4951595
Chromosome Location	chr1:212587320-212587321
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	MAX	chr1:212587315-212589069	GM12878	blood:	n/a	chr1:212588309-212588319 chr1:212587669-212587679
2	SREBP1	chr1:212587176-212589923	GM12878	blood:	n/a	n/a
3	NFIC	chr1:212587294-212587762	GM12878	blood:	n/a	n/a
4	MXI1	chr1:212587309-212587791	GM12878	blood:	n/a	n/a
5	WRNIP1	chr1:212586965-212587567	GM12878	blood:	n/a	n/a
6	ZNF263	chr1:212586794-212588562	HEK293-T-REx	kidney:	n/a	chr1:212587473-212587482 chr1:212587663-212587672
7	JUN	chr1:212586575-212589515	K562	blood:	n/a	chr1:212587985-212587994 chr1:212589466-212589475
8	ELF1	chr1:212587147-212588486	GM12878	blood:	n/a	chr1:212588264-212588273
9	MXI1	chr1:212586634-212588790	SK-N-SH	brain:	n/a	n/a
10	HCFC1	chr1:212586968-212588965	Hela-S3	cervix:	n/a	n/a
11	SIN3A	chr1:212587099-212588562	H1-hESC	embryonic stem cell:	n/a	chr1:212587958-212587969 chr1:212587966-212587977 chr1:212587866-212587877 chr1:212587894-212587907
12	MTA3	chr1:212586945-212589216	GM12878	blood:	n/a	n/a
13	CBX3	chr1:212587056-212587806	K562	blood:	n/a	n/a
14	ZNF263	chr1:212587278-212588312	K562	blood:	n/a	chr1:212587473-212587482 chr1:212587663-212587672
15	EGR1	chr1:212587320-212587746	K562	blood:	n/a	chr1:212587668-212587678 chr1:212587673-212587682
16	EGR1	chr1:212587314-212587741	K562	blood:	n/a	chr1:212587668-212587678 chr1:212587673-212587682
17	MAZ	chr1:212587157-212588647	IMR90	lung:	n/a	chr1:212588309-212588319 chr1:212587669-212587679
18	MAZ	chr1:212587286-212587513	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:212458597..212460542-chr1:212586367..212588357,2	MCF-7	breast:
2	chr1:212587143..212589756-chr1:212965630..212967810,2	K562	blood:
3	chr1:212550848..212553114-chr1:212586010..212588532,2	MCF-7	breast:
4	chr1:212586222..212588940-chr1:212781343..212783037,2	K562	blood:
5	chr1:212586060..212592297-chr1:212603893..212609565,9	MCF-7	breast:
6	chr1:212457988..212460167-chr1:212585002..212587734,2	MCF-7	breast:
7	chr1:212549233..212551182-chr1:212586836..212589324,2	K562	blood:
8	chr1:212585974..212594847-chr1:212598812..212609579,19	K562	blood:
9	chr1:212586665..212588349-chr1:212964322..212966191,2	MCF-7	breast:
10	chr1:212581574..212584496-chr1:212586803..212589409,2	MCF-7	breast:

Variant related genes	Relation type
TMEM206	TF binding region
ENSG00000066027	Chromatin interaction
ENSG00000117691	Chromatin interaction
ENSG00000162772	Chromatin interaction
ENSG00000117697	Chromatin interaction
ENSG00000203705	Chromatin interaction
ENSG00000065600	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11119919	0.84[ASN][1000 genomes]
rs11119920	0.84[ASN][1000 genomes]
rs11119924	0.88[ASN][1000 genomes]
rs11119929	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11576769	0.84[ASN][1000 genomes]
rs11584189	0.82[ASN][1000 genomes]
rs11587555	0.84[ASN][1000 genomes]
rs11588867	0.84[ASN][1000 genomes]
rs11590242	0.88[ASN][1000 genomes]
rs11590672	0.92[ASN][1000 genomes]
rs12060029	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12062818	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12090970	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12095810	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12411213	0.96[ASN][1000 genomes]
rs12726409	0.84[ASN][1000 genomes]
rs12736502	0.84[ASN][1000 genomes]
rs12756678	0.84[ASN][1000 genomes]
rs1470390	0.84[ASN][1000 genomes]
rs2120770	0.84[ASN][1000 genomes]
rs2297306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2358454	0.84[ASN][1000 genomes]
rs2884465	0.92[ASN][1000 genomes]
rs2884466	0.92[ASN][1000 genomes]
rs34080686	0.84[ASN][1000 genomes]
rs56104831	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7518399	0.84[ASN][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	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
6	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
7	esv1828436	chr1:212577765-212591863	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv873156	chr1:212585092-212646225	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212556800-212587600	Weak transcription	Small Intestine	intestine
2	chr1:212584000-212587400	Weak transcription	Ovary	ovary
3	chr1:212585000-212587400	Weak transcription	Aorta	Aorta
4	chr1:212585800-212587400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:212585800-212587400	Flanking Active TSS	GM12878-XiMat	blood
6	chr1:212586000-212587600	Flanking Active TSS	Dnd41	blood
7	chr1:212586200-212587400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:212586400-212587400	Flanking Active TSS	Brain Anterior Caudate	brain
9	chr1:212586400-212587600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
10	chr1:212586400-212587600	Flanking Active TSS	Fetal Brain Female	brain
11	chr1:212586400-212587800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:212586600-212587400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:212586600-212587400	Flanking Active TSS	Brain Hippocampus Middle	brain
14	chr1:212586600-212587400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:212586600-212587400	Flanking Active TSS	Brain Substantia Nigra	brain
16	chr1:212586600-212587600	Flanking Active TSS	Brain Cingulate Gyrus	brain
17	chr1:212586800-212587400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr1:212586800-212587400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
19	chr1:212586800-212587400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
20	chr1:212586800-212587400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:212586800-212587400	Flanking Active TSS	Brain Angular Gyrus	brain
22	chr1:212586800-212587400	Flanking Active TSS	Brain Germinal Matrix	brain
23	chr1:212586800-212587400	Enhancers	Placenta	Placenta
24	chr1:212586800-212587400	Enhancers	Lung	lung
25	chr1:212586800-212587400	Enhancers	Spleen	Spleen
26	chr1:212586800-212587600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:212586800-212587600	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr1:212586800-212587600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr1:212586800-212587600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr1:212586800-212587600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr1:212586800-212587600	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr1:212586800-212587600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr1:212586800-212587600	Flanking Active TSS	HMEC	breast
34	chr1:212586800-212587800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr1:212586800-212588000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:212587000-212587400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
37	chr1:212587000-212587400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
38	chr1:212587000-212587400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:212587000-212587400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:212587000-212587400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:212587000-212587400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
42	chr1:212587000-212587400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:212587000-212587400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
44	chr1:212587000-212587400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr1:212587000-212587400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr1:212587000-212587400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:212587000-212587400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr1:212587000-212587400	Enhancers	Liver	Liver
49	chr1:212587000-212587400	Enhancers	Placenta Amnion	Placenta Amnion
50	chr1:212587000-212587400	Enhancers	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links