Variant report

Variant	rs12948357
Chromosome Location	chr17:17217087-17217088
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17183013..17185688-chr17:17214921..17217867,2	K562	blood:
2	chr17:17108529..17111037-chr17:17215111..17217756,2	K562	blood:
3	chr17:17140305..17141907-chr17:17216216..17218564,2	MCF-7	breast:
4	chr17:17212847..17214355-chr17:17216390..17218542,2	K562	blood:
5	chr17:17209561..17211178-chr17:17215643..17218220,2	MCF-7	breast:
6	chr17:17210615..17212933-chr17:17216145..17218619,3	K562	blood:
7	chr17:17045331..17046239-chr17:17216672..17217525,2	K562	blood:
8	chr17:16900581..16901525-chr17:17216898..17217496,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000179598	Chromatin interaction
ENSG00000154803	Chromatin interaction
ENSG00000141030	Chromatin interaction
ENSG00000264187	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12941075	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17726673	1.00[ASN][1000 genomes]
rs17726703	1.00[ASN][1000 genomes]
rs34025151	1.00[ASN][1000 genomes]
rs35039203	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6502575	1.00[ASN][1000 genomes]
rs6502579	1.00[ASN][1000 genomes]
rs71371202	1.00[ASN][1000 genomes]
rs73300362	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8082383	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9891799	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9913682	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833380	chr17:17088416-17241206	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS 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 target site	21 gene(s)	inside rSNPs	diseases
2	nsv1065811	chr17:17104760-17225204	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv833382	chr17:17124329-17305683	Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv469777	chr17:17127385-17272698	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv482546	chr17:17127385-17272698	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1061186	chr17:17200427-17314406	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17207400-17235400	Weak transcription	Lung	lung
2	chr17:17207600-17217800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr17:17207600-17246400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr17:17207800-17226400	Weak transcription	Brain Angular Gyrus	brain
5	chr17:17207800-17228000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr17:17207800-17228000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr17:17207800-17228400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr17:17207800-17229600	Weak transcription	Adipose Nuclei	Adipose
9	chr17:17207800-17243400	Weak transcription	Colon Smooth Muscle	Colon
10	chr17:17208000-17218600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr17:17208000-17226000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr17:17208000-17226200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr17:17208200-17225400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr17:17208200-17225400	Weak transcription	Brain Anterior Caudate	brain
15	chr17:17208200-17226400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr17:17208200-17228200	Weak transcription	Brain Hippocampus Middle	brain
17	chr17:17208400-17225400	Weak transcription	Brain Germinal Matrix	brain
18	chr17:17208600-17255400	Weak transcription	Brain Substantia Nigra	brain
19	chr17:17208800-17236000	Weak transcription	Right Ventricle	heart
20	chr17:17209000-17217600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr17:17209000-17226000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr17:17209000-17227600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr17:17209200-17224000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr17:17209200-17224600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr17:17209800-17217800	Weak transcription	Thymus	Thymus
26	chr17:17209800-17226400	Weak transcription	Fetal Intestine Small	intestine
27	chr17:17210000-17217800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr17:17210000-17218000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr17:17210200-17217800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr17:17210600-17233400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr17:17212000-17219000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr17:17212400-17229000	Weak transcription	Fetal Brain Male	brain
33	chr17:17213000-17218600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr17:17213000-17248000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr17:17215400-17229000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr17:17215600-17217800	Weak transcription	K562	blood
37	chr17:17215600-17225800	Weak transcription	Fetal Brain Female	brain
38	chr17:17215600-17226600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr17:17215600-17226600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr17:17215600-17228000	Weak transcription	Ovary	ovary
41	chr17:17215600-17231400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr17:17215600-17252800	Weak transcription	Fetal Lung	lung
43	chr17:17215800-17217600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr17:17215800-17228000	Weak transcription	Dnd41	blood
45	chr17:17216600-17217200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr17:17216600-17240800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr17:17216800-17217200	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr17:17216800-17217200	Enhancers	Primary B cells from peripheral blood	blood
49	chr17:17216800-17217200	Enhancers	Primary T cells fromperipheralblood	blood
50	chr17:17216800-17217200	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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