Variant report

Variant	rs4415230
Chromosome Location	chr7:5710427-5710428
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:5659044..5660899-chr7:5710392..5712990,2	K562	blood:
2	chr7:5708885..5710643-chr7:5716339..5719013,2	K562	blood:
3	chr7:5705152..5706828-chr7:5708642..5710454,2	K562	blood:
4	chr7:5702659..5705852-chr7:5707033..5711502,4	K562	blood:
5	chr7:5702659..5705052-chr7:5710002..5711592,2	K562	blood:
6	chr7:5566402..5567944-chr7:5708941..5711902,2	K562	blood:

Variant related genes	Relation type
ENSG00000075624	Chromatin interaction
ENSG00000263900	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs3807583	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[ASN][1000 genomes]
rs4724711	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73064604	0.91[ASN][1000 genomes]
rs7780518	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs7789481	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
5	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers 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 miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
6	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
7	nsv482449	chr7:5557585-5743673	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
8	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
9	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
10	nsv530467	chr7:5617816-5815082	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
11	nsv1017612	chr7:5629728-5819144	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
12	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
13	nsv887417	chr7:5667645-5760860	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
14	nsv887418	chr7:5675305-5772551	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
15	nsv887419	chr7:5703669-5820383	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
16	nsv1028652	chr7:5706207-5769489	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4415230	FSCN1	cis	multi-tissue	Pritchard

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5674800-5728200	Weak transcription	Small Intestine	intestine
2	chr7:5691000-5712000	Weak transcription	Fetal Kidney	kidney
3	chr7:5691200-5721000	Weak transcription	Pancreas	Pancrea
4	chr7:5692600-5717400	Weak transcription	Hela-S3	cervix
5	chr7:5699200-5723000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:5702000-5717600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:5702000-5730600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr7:5702400-5712600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:5702400-5717000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:5702400-5721400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr7:5702600-5711600	Weak transcription	Right Atrium	heart
12	chr7:5702600-5717200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr7:5702600-5717200	Weak transcription	Aorta	Aorta
14	chr7:5702600-5717400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr7:5702600-5717600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr7:5702600-5718000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr7:5702800-5710800	Weak transcription	Brain Angular Gyrus	brain
18	chr7:5702800-5712400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:5702800-5712600	Weak transcription	Esophagus	oesophagus
20	chr7:5702800-5716200	Weak transcription	HSMM	muscle
21	chr7:5702800-5716800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr7:5702800-5727200	Weak transcription	Psoas Muscle	Psoas
23	chr7:5703000-5711600	Weak transcription	Ovary	ovary
24	chr7:5703800-5710600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr7:5705200-5711600	Weak transcription	NHDF-Ad	bronchial
26	chr7:5705400-5711600	Weak transcription	Fetal Thymus	thymus
27	chr7:5705800-5713400	Strong transcription	Primary T cells from cord blood	blood
28	chr7:5706000-5712800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr7:5706000-5713200	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr7:5706600-5710600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr7:5706800-5716400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr7:5707000-5711000	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr7:5707000-5713200	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr7:5707000-5713400	Genic enhancers	Fetal Muscle Leg	muscle
35	chr7:5707400-5713200	Strong transcription	Dnd41	blood
36	chr7:5707600-5710800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr7:5707600-5711400	Weak transcription	Left Ventricle	heart
38	chr7:5707600-5716200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr7:5707600-5717200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr7:5707600-5717200	Weak transcription	A549	lung
41	chr7:5707600-5717400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:5707600-5717600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr7:5707600-5719000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr7:5707600-5721000	Weak transcription	Stomach Mucosa	stomach
45	chr7:5707800-5710800	Weak transcription	HSMMtube	muscle
46	chr7:5707800-5711600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr7:5707800-5712600	Weak transcription	Right Ventricle	heart
48	chr7:5707800-5716200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr7:5707800-5716400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr7:5707800-5716400	Weak transcription	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links