Variant report

Variant	rs12948368
Chromosome Location	chr17:45957975-45957976
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:1)
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	chr17:45954517..45959288-chr17:45971279..45974982,5	MCF-7	breast:
2	chr17:45957419..45959674-chr17:45964404..45967485,3	K562	blood:
3	chr17:45955663..45958108-chr17:45961130..45962855,2	K562	blood:
4	chr17:45927441..45930343-chr17:45957715..45959238,2	MCF-7	breast:
5	chr17:45955819..45958170-chr17:45960377..45962855,3	K562	blood:
6	chr17:45908333..45910422-chr17:45956313..45959153,2	K562	blood:
7	chr17:45949402..45954335-chr17:45955513..45959303,4	K562	blood:
8	chr17:45954484..45959209-chr17:45960047..45963266,6	MCF-7	breast:
9	chr17:45933043..45936005-chr17:45957765..45959391,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SP6-1	chr17:45956838-45959764	ENSG00000266821.1

No data

Variant related genes	Relation type
ENSG00000264920	Chromatin interaction
ENSG00000189120	Chromatin interaction
ENSG00000159111	Chromatin interaction
ENSG00000141294	Chromatin interaction
ENSG00000167182	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11079804	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11545723	0.85[AMR][1000 genomes]
rs12452082	0.81[AMR][1000 genomes]
rs17617250	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34428844	0.85[AMR][1000 genomes]
rs35004787	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35132293	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35480192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35533494	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35702577	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4793693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4793734	0.85[AMR][1000 genomes]
rs4794225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56119022	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62067368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66721410	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv518892	chr17:45887951-46029432	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv908575	chr17:45957591-46049533	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45954600-45964400	Enhancers	Fetal Intestine Large	intestine
2	chr17:45955800-45959400	Weak transcription	Fetal Kidney	kidney
3	chr17:45956200-45959000	Weak transcription	Lung	lung
4	chr17:45956400-45959200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr17:45956400-45959600	Weak transcription	Fetal Lung	lung
6	chr17:45956400-45961600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr17:45956400-45961800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr17:45956400-45962400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr17:45956600-45958200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr17:45956600-45959000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr17:45956600-45959600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr17:45956600-45961200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr17:45956600-45961800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr17:45956600-45961800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr17:45956600-45962000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr17:45956800-45959200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr17:45956800-45959200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr17:45956800-45959200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr17:45956800-45959200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr17:45956800-45959200	Weak transcription	NHDF-Ad	bronchial
21	chr17:45956800-45959400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr17:45956800-45959400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr17:45956800-45959600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr17:45956800-45959600	Weak transcription	HMEC	breast
25	chr17:45956800-45959600	Weak transcription	HSMMtube	muscle
26	chr17:45956800-45960400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr17:45956800-45961800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr17:45957000-45958400	Weak transcription	K562	blood
29	chr17:45957000-45959000	Weak transcription	Osteobl	bone
30	chr17:45957000-45959200	Weak transcription	HSMM	muscle
31	chr17:45957000-45959400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr17:45957200-45958200	Weak transcription	Placenta	Placenta
33	chr17:45957600-45959200	Weak transcription	Spleen	Spleen
34	chr17:45957600-45959800	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr17:45957600-45964200	Enhancers	Fetal Intestine Small	intestine
36	chr17:45957800-45959200	Weak transcription	Fetal Thymus	thymus

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