Variant report

Variant	rs2291071
Chromosome Location	chr4:8242216-8242217
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	POLR2A	chr4:8241939-8242499	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
SH3TC1	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1281096	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1281097	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1871392	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4696783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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
18	esv3440985	chr4:8238952-8243350	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv3437334	chr4:8240102-8242900	Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2291071	SH3TC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8228400-8243800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr4:8228800-8244200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:8230600-8243800	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:8230800-8242800	Weak transcription	NHLF	lung
5	chr4:8230800-8244200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr4:8230800-8244200	Weak transcription	Left Ventricle	heart
7	chr4:8230800-8244200	Weak transcription	Right Atrium	heart
8	chr4:8231000-8243800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:8231000-8243800	Weak transcription	Brain Angular Gyrus	brain
10	chr4:8232000-8243600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr4:8232200-8244200	Strong transcription	HUVEC	blood vessel
12	chr4:8232800-8243800	Strong transcription	Lung	lung
13	chr4:8232800-8244200	Strong transcription	HMEC	breast
14	chr4:8233000-8243400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:8233000-8243800	Strong transcription	Liver	Liver
16	chr4:8233000-8244000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr4:8233200-8243800	Strong transcription	Fetal Stomach	stomach
18	chr4:8234000-8243200	Strong transcription	Pancreas	Pancrea
19	chr4:8234200-8243800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr4:8234400-8243400	Strong transcription	Right Ventricle	heart
21	chr4:8234600-8243600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr4:8235800-8243600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr4:8236000-8244200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr4:8236200-8243600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr4:8236200-8243800	Weak transcription	Brain Hippocampus Middle	brain
26	chr4:8236400-8243600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr4:8236400-8243800	Weak transcription	Fetal Heart	heart
28	chr4:8236400-8243800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr4:8236600-8243600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr4:8236600-8243800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:8236600-8243800	Weak transcription	Fetal Lung	lung
32	chr4:8236600-8244200	Weak transcription	Osteobl	bone
33	chr4:8236600-8244400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr4:8236800-8243800	Weak transcription	Brain Anterior Caudate	brain
35	chr4:8237600-8244200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:8238600-8243800	Weak transcription	HSMM	muscle
37	chr4:8238800-8243800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr4:8238800-8243800	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr4:8239200-8243000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr4:8239400-8244800	Genic enhancers	Fetal Intestine Small	intestine
41	chr4:8239800-8242600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr4:8239800-8244600	Genic enhancers	Fetal Thymus	thymus
43	chr4:8240000-8243800	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr4:8240600-8242400	Strong transcription	Primary B cells from cord blood	blood
45	chr4:8240600-8243400	Strong transcription	Esophagus	oesophagus
46	chr4:8240800-8243600	Weak transcription	Fetal Muscle Leg	muscle
47	chr4:8240800-8243800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr4:8240800-8243800	Weak transcription	Colonic Mucosa	Colon
49	chr4:8240800-8243800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr4:8240800-8244200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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