Variant report

Variant	rs8071028
Chromosome Location	chr17:18130107-18130108
allele	C/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:18127100..18135567-chr17:18158023..18168767,25	MCF-7	breast:
2	chr17:18127536..18130433-chr17:18148836..18151541,2	MCF-7	breast:
3	chr17:18127269..18131326-chr17:18216439..18220320,6	MCF-7	breast:
4	chr17:18128609..18130304-chr17:18157638..18159883,2	K562	blood:
5	chr17:18125152..18133137-chr17:18145532..18152012,9	K562	blood:
6	chr17:18128446..18130837-chr17:18148104..18152552,6	MCF-7	breast:
7	chr17:18129178..18131592-chr17:18137709..18139287,2	MCF-7	breast:
8	chr17:18128887..18137475-chr17:18144772..18151698,11	K562	blood:
9	chr17:18127671..18130325-chr17:18161981..18165246,3	K562	blood:
10	chr17:18126073..18132705-chr17:18158327..18165323,14	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000177427	Chromatin interaction
ENSG00000176994	Chromatin interaction
ENSG00000177731	Chromatin interaction
ENSG00000177302	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs17855350	1.00[EUR][1000 genomes]
rs28694704	1.00[EUR][1000 genomes]
rs55854919	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs56109231	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56180580	1.00[EUR][1000 genomes]
rs56735648	1.00[EUR][1000 genomes]
rs56793258	1.00[EUR][1000 genomes]
rs58115308	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58499955	1.00[EUR][1000 genomes]
rs59738176	1.00[EUR][1000 genomes]
rs59867698	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60320587	1.00[EUR][1000 genomes]
rs60510653	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60699593	1.00[EUR][1000 genomes]
rs60708953	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60814048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61361031	1.00[EUR][1000 genomes]
rs61576260	1.00[EUR][1000 genomes]
rs7207131	1.00[EUR][1000 genomes]
rs7207489	1.00[EUR][1000 genomes]
rs7213472	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7213789	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7219191	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7226015	1.00[EUR][1000 genomes]
rs73288279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73288297	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73288302	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73289913	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73980805	1.00[EUR][1000 genomes]
rs8064901	1.00[EUR][1000 genomes]
rs8068530	1.00[EUR][1000 genomes]
rs8069012	1.00[EUR][1000 genomes]
rs8071911	1.00[EUR][1000 genomes]
rs8074322	1.00[EUR][1000 genomes]
rs8080816	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8082574	0.91[AMR][1000 genomes]
rs9910599	1.00[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	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	nsv482491	chr17:17959577-18153920	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv1062828	chr17:18098110-18136330	Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	nsv543245	chr17:18098110-18136330	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	nsv543246	chr17:18121007-18165604	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
13	nsv9503	chr17:18121474-18169166	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
14	nsv907776	chr17:18122485-18170948	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
15	nsv1066718	chr17:18125122-18180807	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
16	esv3440348	chr17:18127752-18130600	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
17	esv3378937	chr17:18128027-18130225	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18127800-18130200	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr17:18128000-18130600	Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr17:18128200-18130400	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr17:18129200-18130200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr17:18129200-18130200	Flanking Active TSS	Colonic Mucosa	Colon
6	chr17:18129200-18130200	Flanking Active TSS	Placenta	Placenta
7	chr17:18129200-18130200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr17:18129200-18130200	Active TSS	HSMMtube	muscle
9	chr17:18129400-18130200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr17:18129400-18130200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr17:18129400-18130200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
12	chr17:18129400-18130200	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr17:18129400-18130200	Flanking Active TSS	Hela-S3	cervix
14	chr17:18129400-18130400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr17:18129400-18130400	Flanking Active TSS	Colon Smooth Muscle	Colon
16	chr17:18129400-18130400	Flanking Active TSS	Fetal Brain Male	brain
17	chr17:18129400-18130600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr17:18129400-18130600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr17:18129400-18130600	Flanking Active TSS	Dnd41	blood
20	chr17:18129400-18130600	Flanking Active TSS	Osteobl	bone
21	chr17:18129400-18130800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr17:18129400-18130800	Flanking Active TSS	Fetal Brain Female	brain
23	chr17:18129600-18130200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
24	chr17:18129600-18130200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr17:18129600-18130200	Enhancers	Primary B cells from cord blood	blood
26	chr17:18129600-18130200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr17:18129600-18130200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr17:18129600-18130200	Flanking Active TSS	Esophagus	oesophagus
29	chr17:18129600-18130200	Flanking Active TSS	Fetal Intestine Large	intestine
30	chr17:18129600-18130200	Flanking Active TSS	Fetal Intestine Small	intestine
31	chr17:18129600-18130200	Flanking Active TSS	Fetal Muscle Trunk	muscle
32	chr17:18129600-18130200	Flanking Active TSS	Fetal Stomach	stomach
33	chr17:18129600-18130200	Enhancers	Pancreas	Pancrea
34	chr17:18129600-18130200	Flanking Active TSS	Placenta Amnion	Placenta Amnion
35	chr17:18129600-18130200	Flanking Active TSS	HUVEC	blood vessel
36	chr17:18129600-18130200	Flanking Active TSS	NH-A	brain
37	chr17:18129600-18130200	Flanking Active TSS	NHEK	skin
38	chr17:18129600-18130400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr17:18129600-18130400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr17:18129600-18130400	Flanking Active TSS	Brain Angular Gyrus	brain
41	chr17:18129600-18130400	Flanking Active TSS	Fetal Muscle Leg	muscle
42	chr17:18129600-18130400	Flanking Active TSS	HSMM	muscle
43	chr17:18129600-18130600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr17:18129600-18130600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr17:18129600-18130600	Flanking Active TSS	Brain Germinal Matrix	brain
46	chr17:18129600-18130600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr17:18129600-18130800	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr17:18129600-18148400	Weak transcription	Small Intestine	intestine
49	chr17:18129800-18130200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr17:18129800-18130200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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