Variant report

Variant	rs56773912
Chromosome Location	chr4:8197927-8197928
allele	A/C
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	chr4:8197907-8198018	K562	blood:	n/a	chr4:8197915-8197924
2	BHLHE40	chr4:8197835-8198032	K562	blood:	n/a	n/a
3	JUND	chr4:8197784-8198093	K562	blood:	n/a	chr4:8197915-8197923 chr4:8197915-8197923 chr4:8197915-8197922 chr4:8197914-8197924

No.	Distal block	Cell Line	Cell type
1	chr4:8195725..8198126-chr4:8238876..8240631,2	MCF-7	breast:
2	chr4:8196058..8199736-chr4:8201784..8203810,3	K562	blood:
3	chr4:8196365..8198460-chr4:8203921..8207190,4	K562	blood:

Variant related genes	Relation type
SH3TC1	TF binding region
ENSG00000125089	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1281116	0.85[EUR][1000 genomes]
rs1281121	0.87[EUR][1000 genomes]
rs55727461	0.97[EUR][1000 genomes]
rs56133518	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56318069	0.91[EUR][1000 genomes]
rs58214166	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58829078	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs59350156	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61366997	0.93[EUR][1000 genomes]
rs73077982	0.96[EUR][1000 genomes]
rs73077985	0.96[EUR][1000 genomes]
rs73077988	0.96[EUR][1000 genomes]
rs73077994	0.96[EUR][1000 genomes]
rs73077998	0.95[EUR][1000 genomes]
rs73079705	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73079711	0.86[EUR][1000 genomes]
rs73798643	0.92[EUR][1000 genomes]
rs73798644	0.83[EUR][1000 genomes]
rs73798645	0.96[EUR][1000 genomes]
rs73800411	0.91[EUR][1000 genomes]
rs73800413	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878591	chr4:8063501-8207083	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1010809	chr4:8097627-8292324	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv878593	chr4:8125788-8233341	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv461216	chr4:8154534-8276411	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv593626	chr4:8154534-8276411	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv878594	chr4:8154534-8286916	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv470012	chr4:8171401-8233341	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv878596	chr4:8171401-8254784	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv878597	chr4:8171401-8294196	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription 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	18 gene(s)	inside rSNPs	diseases
12	nsv829853	chr4:8172065-8320868	Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
13	nsv869928	chr4:8195069-8214848	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv878598	chr4:8195705-8254784	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv878599	chr4:8195705-8293398	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8185200-8202600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:8189600-8199200	Enhancers	HUVEC	blood vessel
3	chr4:8190200-8200400	Enhancers	Fetal Thymus	thymus
4	chr4:8191400-8199800	Weak transcription	Liver	Liver
5	chr4:8191800-8200800	Enhancers	Placenta	Placenta
6	chr4:8192200-8200400	Weak transcription	Brain Anterior Caudate	brain
7	chr4:8192400-8200600	Weak transcription	Brain Substantia Nigra	brain
8	chr4:8193000-8200600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr4:8193600-8200400	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr4:8193600-8200600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr4:8194200-8198000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:8194200-8199200	Enhancers	Thymus	Thymus
13	chr4:8194200-8201000	Weak transcription	Psoas Muscle	Psoas
14	chr4:8194800-8198200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr4:8195000-8199600	Weak transcription	Gastric	stomach
16	chr4:8195000-8200000	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr4:8195000-8200000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr4:8195000-8200000	Weak transcription	Fetal Heart	heart
19	chr4:8195000-8200200	Weak transcription	Brain Hippocampus Middle	brain
20	chr4:8195000-8200400	Weak transcription	Colon Smooth Muscle	Colon
21	chr4:8195200-8199000	Weak transcription	A549	lung
22	chr4:8195200-8199800	Weak transcription	Fetal Kidney	kidney
23	chr4:8195200-8199800	Weak transcription	GM12878-XiMat	blood
24	chr4:8195200-8200000	Weak transcription	Hela-S3	cervix
25	chr4:8195400-8199600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr4:8195400-8199600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr4:8195400-8200600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr4:8195400-8200800	Enhancers	Fetal Muscle Leg	muscle
29	chr4:8195600-8199400	Weak transcription	Primary B cells from cord blood	blood
30	chr4:8195600-8199400	Weak transcription	Fetal Intestine Small	intestine
31	chr4:8195600-8200600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr4:8195600-8200600	Enhancers	Esophagus	oesophagus
33	chr4:8195800-8200600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr4:8195800-8204200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr4:8196000-8198000	Enhancers	HMEC	breast
36	chr4:8196000-8198800	Enhancers	Right Ventricle	heart
37	chr4:8196000-8198800	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr4:8196000-8200000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr4:8196000-8200600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr4:8196200-8200000	Weak transcription	Fetal Intestine Large	intestine
41	chr4:8196200-8200200	Enhancers	Adipose Nuclei	Adipose
42	chr4:8196400-8198600	Enhancers	Right Atrium	heart
43	chr4:8196600-8198600	Enhancers	Left Ventricle	heart
44	chr4:8196600-8198600	Enhancers	Lung	lung
45	chr4:8196600-8200400	Enhancers	Primary hematopoietic stem cells	blood
46	chr4:8196600-8200600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr4:8196800-8198800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:8196800-8199600	Weak transcription	NHEK	skin
49	chr4:8197000-8198200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr4:8197000-8200200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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