Variant report

Variant	rs540424593
Chromosome Location	chr17:17207422-17207423
allele	A/C
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17088943..17091453-chr17:17205581..17207911,3	K562	blood:
2	chr17:17138230..17139977-chr17:17206965..17208705,2	K562	blood:
3	chr17:17183059..17186537-chr17:17204352..17209458,5	K562	blood:
4	chr17:17135445..17137036-chr17:17206485..17208759,2	K562	blood:
5	chr17:17179045..17181973-chr17:17206782..17208341,2	MCF-7	breast:
6	chr17:17182421..17186483-chr17:17204152..17209830,5	MCF-7	breast:
7	chr17:17207386..17210121-chr17:17225925..17228746,2	K562	blood:
8	chr17:17137888..17140600-chr17:17205281..17208205,3	MCF-7	breast:
9	chr17:17207055..17208999-chr17:17214902..17216506,2	MCF-7	breast:
10	chr17:17109423..17111075-chr17:17206335..17209184,2	K562	blood:
11	chr17:17138742..17142464-chr17:17205516..17208012,3	MCF-7	breast:
12	chr17:17183415..17186229-chr17:17206165..17209020,3	MCF-7	breast:
13	chr17:17138440..17139977-chr17:17207205..17209555,2	K562	blood:
14	chr17:17181690..17186423-chr17:17204352..17210529,13	K562	blood:

No data

Variant related genes	Relation type
ENSG00000133030	Chromatin interaction
ENSG00000154803	Chromatin interaction
ENSG00000179598	Chromatin interaction
ENSG00000266498	Chromatin interaction
ENSG00000141030	Chromatin interaction
ENSG00000264187	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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	esv33859	chr17:17189904-17208157	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	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
8	esv3408202	chr17:17205752-17208600	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	esv3351525	chr17:17205977-17207925	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17205800-17207600	Active TSS	K562	blood
2	chr17:17206000-17207600	Active TSS	Fetal Lung	lung
3	chr17:17206000-17208600	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr17:17206200-17207600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr17:17206200-17207600	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr17:17206200-17207600	Active TSS	Colon Smooth Muscle	Colon
7	chr17:17206200-17207600	Active TSS	NHLF	lung
8	chr17:17206200-17208200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr17:17206200-17209400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr17:17206400-17207600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr17:17206600-17207600	Active TSS	HSMM	muscle
12	chr17:17206600-17207600	Active TSS	NH-A	brain
13	chr17:17207000-17207600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
14	chr17:17207000-17207600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr17:17207000-17207600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr17:17207000-17207600	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr17:17207000-17207600	Weak transcription	Spleen	Spleen
18	chr17:17207000-17207600	Flanking Active TSS	HMEC	breast
19	chr17:17207000-17207800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr17:17207000-17207800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr17:17207000-17208200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
22	chr17:17207000-17208200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr17:17207000-17209600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr17:17207000-17210000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr17:17207200-17207600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr17:17207200-17207600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr17:17207200-17207600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr17:17207200-17207600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr17:17207200-17207600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr17:17207200-17207600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr17:17207200-17207600	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr17:17207200-17207600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr17:17207200-17207600	Flanking Active TSS	Fetal Muscle Leg	muscle
34	chr17:17207200-17207600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr17:17207200-17207600	Flanking Active TSS	HUVEC	blood vessel
36	chr17:17207200-17207800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr17:17207200-17207800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr17:17207200-17207800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr17:17207200-17207800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr17:17207200-17207800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr17:17207200-17207800	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr17:17207200-17207800	Flanking Active TSS	Fetal Brain Female	brain
43	chr17:17207200-17207800	Flanking Active TSS	Fetal Intestine Large	intestine
44	chr17:17207200-17207800	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr17:17207200-17207800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
46	chr17:17207200-17208000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
47	chr17:17207200-17208000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr17:17207200-17208000	Flanking Active TSS	Thymus	Thymus
49	chr17:17207200-17208200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
50	chr17:17207200-17208200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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