Variant report

Variant	rs17643917
Chromosome Location	chr3:158485739-158485740
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:158461553..158464844-chr3:158481750..158486798,5	K562	blood:
2	chr3:158460535..158463569-chr3:158485290..158488167,3	MCF-7	breast:
3	chr3:158479176..158482005-chr3:158485164..158487706,3	K562	blood:
4	chr3:158481568..158484125-chr3:158484857..158486850,2	MCF-7	breast:
5	chr3:158485196..158489505-chr3:158495031..158498581,4	K562	blood:
6	chr3:158477568..158480525-chr3:158482455..158485821,4	MCF-7	breast:
7	chr3:158475361..158479094-chr3:158484142..158487380,3	K562	blood:
8	chr3:158484534..158487516-chr3:158491786..158494617,2	K562	blood:
9	chr3:158482314..158484425-chr3:158485619..158487741,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000243675	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs12489730	0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs12491877	0.91[ASN][1000 genomes]
rs12495962	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12497488	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1430413	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1430414	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1560417	0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs1560418	0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs16829365	0.81[ASN][1000 genomes]
rs17642769	0.88[ASN][1000 genomes]
rs17643171	0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs17643252	0.90[ASN][1000 genomes]
rs17643483	0.90[ASN][1000 genomes]
rs17643581	0.90[ASN][1000 genomes]
rs17643860	1.00[CEU][hapmap];0.92[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17699478	0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs17699526	0.88[ASN][1000 genomes]
rs17699997	0.90[ASN][1000 genomes]
rs17700122	0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs17700475	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2279561	0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs2279562	0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs2307064	0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs2566347	0.93[ASN][1000 genomes]
rs34690420	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3863076	0.92[CEU][hapmap];0.92[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55678388	0.90[ASN][1000 genomes]
rs55705231	0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs55717824	0.91[ASN][1000 genomes]
rs55776609	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56023805	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56078503	0.91[ASN][1000 genomes]
rs56105525	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56152025	0.90[ASN][1000 genomes]
rs56235582	0.91[ASN][1000 genomes]
rs56261306	0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs56318834	0.90[ASN][1000 genomes]
rs57262841	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59163359	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59173444	0.83[ASN][1000 genomes]
rs60203196	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61138408	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61794798	0.90[ASN][1000 genomes]
rs61794799	0.90[ASN][1000 genomes]
rs61794818	0.91[ASN][1000 genomes]
rs61794821	0.91[ASN][1000 genomes]
rs61794822	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61794833	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61794834	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61794835	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61794858	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61794859	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61796762	0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs61796764	0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs61796768	0.91[ASN][1000 genomes]
rs61796770	0.91[ASN][1000 genomes]
rs6441221	0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs6441226	0.90[YRI][hapmap]
rs6761989	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6783610	0.90[ASN][1000 genomes]
rs6792908	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73158361	0.91[ASN][1000 genomes]
rs7624420	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7624702	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002378	chr3:157715428-158673414	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer 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	47 gene(s)	inside rSNPs	diseases
2	nsv1004124	chr3:158146715-158808638	Genic enhancers Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv530059	chr3:158332590-159147549	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1014255	chr3:158358860-158768542	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv532665	chr3:158370013-158754245	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv948755	chr3:158388780-158672287	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking 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 lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv877692	chr3:158430706-158828643	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv1001450	chr3:158440011-158768399	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv536777	chr3:158440011-158768399	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv877693	chr3:158470321-158583004	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
11	nsv1006146	chr3:158475824-158625778	Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv592123	chr3:158477796-158625128	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv1002514	chr3:158484027-158673414	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
14	nsv536778	chr3:158484027-158673414	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17643917	GFM1	Cis_1M	lymphoblastoid	RTeQTL
rs17643917	LXN	cis	multi-tissue	Pritchard

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158451000-158485800	Weak transcription	Fetal Kidney	kidney
2	chr3:158453600-158486400	Weak transcription	Esophagus	oesophagus
3	chr3:158457400-158486000	Weak transcription	Right Ventricle	heart
4	chr3:158457800-158486200	Weak transcription	Pancreas	Pancrea
5	chr3:158460400-158486000	Weak transcription	Brain Hippocampus Middle	brain
6	chr3:158466000-158486000	Weak transcription	Aorta	Aorta
7	chr3:158466000-158486200	Weak transcription	Gastric	stomach
8	chr3:158466200-158486200	Weak transcription	Brain Angular Gyrus	brain
9	chr3:158466200-158486200	Weak transcription	Fetal Brain Male	brain
10	chr3:158466600-158486200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr3:158466800-158486000	Weak transcription	Spleen	Spleen
12	chr3:158466800-158486200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr3:158466800-158486200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr3:158467600-158486000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr3:158468000-158486200	Weak transcription	Lung	lung
16	chr3:158468200-158488200	Weak transcription	Primary T cells from cord blood	blood
17	chr3:158472400-158486000	Weak transcription	Small Intestine	intestine
18	chr3:158479600-158495600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr3:158481200-158485800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:158481400-158485800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:158481400-158485800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr3:158482600-158486400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr3:158482800-158490600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr3:158483400-158490600	Enhancers	HMEC	breast
25	chr3:158483600-158486200	Enhancers	Stomach Smooth Muscle	stomach
26	chr3:158483800-158485800	Weak transcription	HUVEC	blood vessel
27	chr3:158483800-158486000	Weak transcription	Fetal Heart	heart
28	chr3:158483800-158486000	Weak transcription	Left Ventricle	heart
29	chr3:158483800-158486000	Weak transcription	Right Atrium	heart
30	chr3:158484200-158486000	Enhancers	Colon Smooth Muscle	Colon
31	chr3:158484200-158486000	Enhancers	Rectal Smooth Muscle	rectum
32	chr3:158484400-158486000	Enhancers	A549	lung
33	chr3:158484800-158486000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr3:158484800-158486000	Enhancers	HSMMtube	muscle
35	chr3:158484800-158486400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr3:158484800-158490200	Enhancers	Fetal Muscle Leg	muscle
37	chr3:158485000-158485800	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr3:158485000-158486000	Enhancers	Fetal Lung	lung
39	chr3:158485000-158486800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr3:158485000-158489000	Enhancers	Fetal Intestine Large	intestine
41	chr3:158485000-158489800	Enhancers	Fetal Stomach	stomach
42	chr3:158485200-158485800	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr3:158485400-158486200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr3:158485400-158486200	Enhancers	Psoas Muscle	Psoas
45	chr3:158485600-158485800	Enhancers	Osteobl	bone
46	chr3:158485600-158486000	Enhancers	Adipose Nuclei	Adipose
47	chr3:158485600-158486000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr3:158485600-158486000	Enhancers	HepG2	liver
49	chr3:158485600-158486000	Enhancers	HSMM	muscle
50	chr3:158485600-158486200	Enhancers	Colonic Mucosa	Colon

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