Variant report

Variant	rs4252665
Chromosome Location	chr17:37885383-37885384
allele	C/T
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:37781012..37783798-chr17:37885303..37888164,4	K562	blood:
2	chr17:37860742..37863626-chr17:37884816..37888176,3	MCF-7	breast:
3	chr17:37836650..37841918-chr17:37884817..37888421,5	K562	blood:
4	chr17:37884905..37887693-chr17:37894356..37897202,3	MCF-7	breast:
5	chr17:37855322..37860162-chr17:37882817..37887032,7	MCF-7	breast:
6	chr17:37855311..37858072-chr17:37885359..37888218,2	K562	blood:
7	chr17:37884020..37887628-chr17:37894260..37898735,4	K562	blood:
8	chr17:37843726..37845858-chr17:37884335..37886775,2	K562	blood:
9	chr17:37885346..37888543-chr17:37891725..37895938,5	MCF-7	breast:
10	chr17:37885255..37888241-chr17:38082917..38084897,2	K562	blood:
11	chr17:37774543..37777330-chr17:37885224..37887436,2	K562	blood:
12	chr17:37775830..37778279-chr17:37884015..37886724,2	K562	blood:
13	chr17:37861008..37863729-chr17:37884662..37888113,4	MCF-7	breast:
14	chr17:37879887..37888300-chr17:37891591..37897811,12	K562	blood:
15	chr17:37820151..37821695-chr17:37885037..37886831,2	K562	blood:
16	chr17:37792754..37795170-chr17:37883979..37887971,4	K562	blood:
17	chr17:37871866..37874609-chr17:37884182..37887614,4	MCF-7	breast:
18	chr17:37842219..37845858-chr17:37884394..37886871,3	K562	blood:
19	chr17:37864069..37866883-chr17:37884219..37886655,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000264968	Chromatin interaction
ENSG00000131771	Chromatin interaction
ENSG00000214546	Chromatin interaction
ENSG00000141736	Chromatin interaction
ENSG00000141738	Chromatin interaction
ENSG00000172057	Chromatin interaction
ENSG00000173991	Chromatin interaction
ENSG00000161395	Chromatin interaction
ENSG00000131748	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12937330	1.00[MEX][hapmap]
rs1453560	1.00[MEX][hapmap]
rs17676923	0.81[AMR][1000 genomes]
rs2123685	0.81[AMR][1000 genomes]
rs35104165	0.81[AMR][1000 genomes]
rs35770042	0.88[EUR][1000 genomes]
rs7503018	1.00[MEX][hapmap]
rs8076347	1.00[MEX][hapmap]
rs8079075	1.00[MEX][hapmap]
rs9652840	1.00[CEU][hapmap]
rs9891131	1.00[CEU][hapmap];1.00[MEX][hapmap];0.88[EUR][1000 genomes]
rs9896940	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9901483	1.00[MEX][hapmap]
rs9907966	1.00[MEX][hapmap]
rs9908694	1.00[MEX][hapmap]
rs9910678	1.00[CEU][hapmap];1.00[MEX][hapmap];0.88[EUR][1000 genomes]
rs9911688	1.00[MEX][hapmap]
rs9913769	1.00[MEX][hapmap]
rs9913957	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv908207	chr17:37709422-37922259	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	esv1792029	chr17:37797757-37886460	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv1056234	chr17:37862605-37909988	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv908219	chr17:37880265-37917633	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37858000-37885600	Weak transcription	Hela-S3	cervix
2	chr17:37862400-37885400	Strong transcription	H9 Cell Line	embryonic stem cell
3	chr17:37862400-37885600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:37862400-37885600	Strong transcription	Fetal Stomach	stomach
5	chr17:37862400-37885800	Weak transcription	Right Atrium	heart
6	chr17:37862600-37885600	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr17:37862800-37885600	Strong transcription	Fetal Intestine Large	intestine
8	chr17:37863000-37885600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr17:37863200-37885600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr17:37863200-37885800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr17:37863600-37885600	Strong transcription	Fetal Intestine Small	intestine
12	chr17:37872200-37886000	Weak transcription	NH-A	brain
13	chr17:37872800-37885400	Strong transcription	Stomach Smooth Muscle	stomach
14	chr17:37873600-37885600	Strong transcription	Liver	Liver
15	chr17:37873800-37885400	Strong transcription	Duodenum Mucosa	Duodenum
16	chr17:37875800-37885400	Strong transcription	Lung	lung
17	chr17:37876200-37885600	Strong transcription	Fetal Muscle Trunk	muscle
18	chr17:37876400-37885600	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr17:37876800-37885800	Weak transcription	HSMM	muscle
20	chr17:37876800-37886000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr17:37877200-37886000	Weak transcription	Psoas Muscle	Psoas
22	chr17:37877800-37885400	Strong transcription	Placenta Amnion	Placenta Amnion
23	chr17:37878400-37885600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr17:37878400-37885800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr17:37879000-37886200	Weak transcription	Fetal Kidney	kidney
26	chr17:37879400-37885400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr17:37879400-37885400	Strong transcription	HepG2	liver
28	chr17:37879600-37885400	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr17:37879600-37885600	Strong transcription	Skeletal Muscle Male	skeletal muscle
30	chr17:37879600-37885800	Strong transcription	NHLF	lung
31	chr17:37879800-37885400	Strong transcription	Right Ventricle	heart
32	chr17:37879800-37885800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr17:37880000-37885400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr17:37880000-37885400	Strong transcription	Gastric	stomach
35	chr17:37880000-37885400	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr17:37880000-37885600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr17:37880000-37885800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr17:37880200-37885400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr17:37880200-37885400	Strong transcription	Esophagus	oesophagus
40	chr17:37880400-37885400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr17:37880400-37885400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr17:37880400-37885400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr17:37880400-37885600	Strong transcription	NHEK	skin
44	chr17:37880400-37885800	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr17:37880400-37885800	Weak transcription	HMEC	breast
46	chr17:37880400-37886200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr17:37880800-37885400	Strong transcription	A549	lung
48	chr17:37880800-37885400	Strong transcription	HSMMtube	muscle
49	chr17:37880800-37885800	Weak transcription	Fetal Heart	heart
50	chr17:37881000-37885400	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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