Variant report

Variant	rs7207131
Chromosome Location	chr17:18192307-18192308
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:18191608..18193928-chr17:18215940..18217490,2	K562	blood:
2	chr17:18191424..18193108-chr17:18215940..18218273,2	K562	blood:
3	chr17:18148899..18151132-chr17:18192082..18193861,2	K562	blood:
4	chr17:18173874..18176766-chr17:18191983..18193813,2	K562	blood:

Variant related genes	Relation type
ENSG00000177731	Chromatin interaction
ENSG00000237382	Chromatin interaction
ENSG00000177302	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs17855350	1.00[EUR][1000 genomes]
rs28694704	1.00[EUR][1000 genomes]
rs56109231	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56180580	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56735648	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56793258	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58115308	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58499955	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59738176	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59867698	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60320587	1.00[EUR][1000 genomes]
rs60510653	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60699593	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60708953	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60814048	1.00[EUR][1000 genomes]
rs61361031	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61576260	1.00[EUR][1000 genomes]
rs7207489	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7213472	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7213789	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7219191	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7226015	1.00[EUR][1000 genomes]
rs73288279	1.00[EUR][1000 genomes]
rs73288297	1.00[EUR][1000 genomes]
rs73288302	1.00[EUR][1000 genomes]
rs73289913	1.00[EUR][1000 genomes]
rs73980805	1.00[EUR][1000 genomes]
rs8064901	1.00[EUR][1000 genomes]
rs8068530	1.00[EUR][1000 genomes]
rs8069012	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8071028	1.00[EUR][1000 genomes]
rs8071911	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8074322	1.00[EUR][1000 genomes]
rs8080816	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8082574	0.82[AMR][1000 genomes]
rs9910599	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
4	nsv1061162	chr17:17978838-18259234	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv492305	chr17:17980441-18424702	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
6	nsv907773	chr17:18099962-18206234	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers 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	21 gene(s)	inside rSNPs	diseases
7	nsv907774	chr17:18103907-18206234	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv907775	chr17:18108496-18206234	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv833386	chr17:18170261-18332726	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
10	nsv1057081	chr17:18171516-18256347	Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
11	nsv543247	chr17:18171516-18256347	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS 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 miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
12	nsv1062368	chr17:18180747-18259234	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18172200-18217400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:18172400-18201000	Strong transcription	Fetal Stomach	stomach
3	chr17:18172800-18198400	Strong transcription	Thymus	Thymus
4	chr17:18173000-18198400	Strong transcription	Fetal Thymus	thymus
5	chr17:18173000-18199000	Strong transcription	Primary T cells from cord blood	blood
6	chr17:18173000-18200400	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr17:18173000-18213800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr17:18173200-18198400	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr17:18173200-18200200	Strong transcription	Placenta	Placenta
10	chr17:18173400-18198200	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr17:18173400-18198400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr17:18173400-18198800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr17:18173400-18200200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr17:18173400-18200800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr17:18173400-18201000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr17:18173400-18201000	Strong transcription	Fetal Intestine Small	intestine
17	chr17:18173600-18198200	Strong transcription	Stomach Smooth Muscle	stomach
18	chr17:18173600-18200200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr17:18173600-18200800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr17:18174000-18200600	Strong transcription	Dnd41	blood
21	chr17:18174200-18200600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr17:18174800-18198600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr17:18174800-18200600	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr17:18175600-18196600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr17:18175600-18200800	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr17:18175800-18198600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr17:18175800-18199000	Strong transcription	H9 Cell Line	embryonic stem cell
28	chr17:18175800-18200800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr17:18175800-18201000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr17:18176200-18198200	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr17:18176200-18198400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr17:18176200-18198600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr17:18176200-18200800	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr17:18176400-18196600	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr17:18176400-18197000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr17:18176400-18198400	Strong transcription	Adipose Nuclei	Adipose
37	chr17:18176400-18199000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr17:18176400-18200200	Strong transcription	Fetal Intestine Large	intestine
39	chr17:18176400-18200200	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr17:18176400-18201000	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr17:18176600-18198200	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr17:18176600-18200200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr17:18176600-18200800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr17:18177400-18197000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr17:18177600-18198400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr17:18179200-18198400	Strong transcription	Fetal Lung	lung
47	chr17:18179200-18198600	Strong transcription	Liver	Liver
48	chr17:18179400-18198200	Strong transcription	Placenta Amnion	Placenta Amnion
49	chr17:18181200-18200800	Strong transcription	Fetal Muscle Trunk	muscle
50	chr17:18181400-18200200	Strong transcription	Fetal Muscle Leg	muscle

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