Variant report

Variant	rs1281131
Chromosome Location	chr4:8208789-8208790
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	CUX1	chr4:8208635-8208826	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:8201150..8205648-chr4:8206751..8210488,5	MCF-7	breast:
2	chr4:8206620..8209251-chr4:8213740..8215490,2	MCF-7	breast:
3	chr4:8202798..8206403-chr4:8207013..8209683,3	K562	blood:

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

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1281117	0.82[CEU][hapmap]
rs1281130	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1298878	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1678263	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs1678269	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2677605	1.00[CHB][hapmap];0.92[JPT][hapmap];0.98[ASN][1000 genomes]
rs922521	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	esv2763338	chr4:8199091-8260812	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	esv1831794	chr4:8199833-8233341	Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	nsv593627	chr4:8202211-8311043	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8203000-8216200	Weak transcription	Osteobl	bone
2	chr4:8203000-8216400	Weak transcription	Hela-S3	cervix
3	chr4:8203200-8208800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:8203200-8222400	Weak transcription	Brain Substantia Nigra	brain
5	chr4:8203400-8210800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:8203400-8216400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr4:8203400-8216600	Weak transcription	Right Atrium	heart
8	chr4:8203600-8211200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:8203600-8216600	Weak transcription	Left Ventricle	heart
10	chr4:8203800-8216600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:8203800-8216600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr4:8203800-8224800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr4:8204000-8209200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr4:8204000-8216600	Weak transcription	Brain Anterior Caudate	brain
15	chr4:8204200-8212200	Weak transcription	Fetal Kidney	kidney
16	chr4:8204200-8216000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr4:8204600-8218800	Weak transcription	Brain Hippocampus Middle	brain
18	chr4:8204800-8209200	Weak transcription	Primary T cells from cord blood	blood
19	chr4:8204800-8222600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr4:8205000-8210400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr4:8205000-8211400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr4:8205000-8219200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr4:8205200-8209000	Enhancers	Dnd41	blood
24	chr4:8205200-8212400	Genic enhancers	Primary monocytes fromperipheralblood	blood
25	chr4:8205200-8219800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr4:8205400-8209000	Enhancers	Primary hematopoietic stem cells	blood
27	chr4:8205800-8212000	Strong transcription	Fetal Stomach	stomach
28	chr4:8206200-8210400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr4:8206400-8209400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:8206400-8214200	Genic enhancers	Fetal Thymus	thymus
31	chr4:8206600-8209000	Weak transcription	HepG2	liver
32	chr4:8206800-8209200	Weak transcription	Adipose Nuclei	Adipose
33	chr4:8207000-8209400	Weak transcription	Fetal Intestine Large	intestine
34	chr4:8207400-8212200	Strong transcription	Liver	Liver
35	chr4:8207600-8209600	Genic enhancers	Primary B cells from cord blood	blood
36	chr4:8207600-8209800	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr4:8207600-8211800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr4:8207800-8209600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr4:8207800-8212600	Weak transcription	A549	lung
40	chr4:8207800-8216000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:8208000-8208800	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr4:8208000-8209400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr4:8208000-8210400	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr4:8208000-8211400	Strong transcription	HUVEC	blood vessel
45	chr4:8208000-8211800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr4:8208000-8211800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr4:8208000-8212600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr4:8208000-8216200	Weak transcription	NHLF	lung
49	chr4:8208000-8216600	Weak transcription	Right Ventricle	heart
50	chr4:8208000-8216800	Weak transcription	Stomach Mucosa	stomach

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