Variant report

Variant	rs1281097
Chromosome Location	chr4:8247333-8247334
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8246169..8248159-chr4:8249694..8252255,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10030598	0.81[EUR][1000 genomes]
rs10938701	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12186177	0.87[EUR][1000 genomes]
rs12186205	0.82[EUR][1000 genomes]
rs12650149	0.83[EUR][1000 genomes]
rs1281096	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1281098	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1281100	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1678335	0.88[EUR][1000 genomes]
rs1712292	0.90[EUR][1000 genomes]
rs1712296	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2291071	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3852111	0.90[EUR][1000 genomes]
rs4696783	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4696784	0.87[EUR][1000 genomes]
rs4696785	0.85[EUR][1000 genomes]
rs4696786	0.85[EUR][1000 genomes]
rs4696788	1.00[CEU][hapmap]
rs62286480	0.87[EUR][1000 genomes]
rs62286482	0.87[EUR][1000 genomes]
rs6828322	0.87[EUR][1000 genomes]
rs6837910	0.81[EUR][1000 genomes]
rs7654812	0.82[EUR][1000 genomes]
rs7655174	0.85[EUR][1000 genomes]
rs7676690	0.86[EUR][1000 genomes]
rs7679075	0.82[EUR][1000 genomes]
rs7692203	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs7694755	0.86[EUR][1000 genomes]
rs7698121	0.86[CEU][hapmap]
rs922517	0.88[AMR][1000 genomes];0.92[EUR][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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	nsv878600	chr4:8209447-8312158	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
15	nsv878601	chr4:8214767-8440951	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS 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 target site	19 gene(s)	inside rSNPs	diseases
16	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
17	nsv1009011	chr4:8225669-8424831	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1281097	SH3TC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8240800-8254400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:8241200-8247600	Weak transcription	Dnd41	blood
3	chr4:8241400-8254200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr4:8243400-8247800	Weak transcription	Gastric	stomach
5	chr4:8243400-8249400	Weak transcription	Esophagus	oesophagus
6	chr4:8243600-8249200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr4:8243800-8247800	Weak transcription	Liver	Liver
8	chr4:8244400-8248400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr4:8244600-8247600	Weak transcription	Lung	lung
10	chr4:8244600-8248000	Weak transcription	Spleen	Spleen
11	chr4:8244600-8248400	Weak transcription	Stomach Mucosa	stomach
12	chr4:8244600-8248600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:8244600-8248600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:8244600-8248600	Weak transcription	Right Ventricle	heart
15	chr4:8244600-8248800	Weak transcription	Colonic Mucosa	Colon
16	chr4:8244800-8247800	Weak transcription	Adipose Nuclei	Adipose
17	chr4:8244800-8248000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:8244800-8248000	Weak transcription	Right Atrium	heart
19	chr4:8244800-8248200	Weak transcription	Left Ventricle	heart
20	chr4:8244800-8248400	Weak transcription	NHEK	skin
21	chr4:8244800-8248600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:8244800-8248600	Weak transcription	A549	lung
23	chr4:8244800-8248600	Weak transcription	NHDF-Ad	bronchial
24	chr4:8244800-8249000	Weak transcription	Fetal Intestine Large	intestine
25	chr4:8245000-8247400	Weak transcription	GM12878-XiMat	blood
26	chr4:8245000-8248400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:8245000-8248600	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr4:8245000-8248600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr4:8245000-8248600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr4:8245000-8249800	Weak transcription	HUVEC	blood vessel
31	chr4:8245000-8255800	Weak transcription	HMEC	breast
32	chr4:8245200-8248600	Weak transcription	Fetal Lung	lung
33	chr4:8245200-8255200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:8246200-8249200	Weak transcription	Fetal Intestine Small	intestine
35	chr4:8246200-8254400	Weak transcription	Fetal Thymus	thymus
36	chr4:8246400-8248000	Weak transcription	Thymus	Thymus
37	chr4:8246400-8249000	Weak transcription	HSMM	muscle
38	chr4:8246800-8248000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:8247200-8248800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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