Variant report

Variant	rs16965778
Chromosome Location	chr17:38573244-38573245
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38571689..38573604-chr17:38633869..38636651,3	K562	blood:
2	chr17:38571639..38573723-chr17:38715202..38717079,2	K562	blood:
3	chr17:38518730..38520682-chr17:38569502..38573340,3	MCF-7	breast:
4	chr17:38572047..38583621-chr17:38597341..38605150,24	MCF-7	breast:
5	chr17:38519063..38522724-chr17:38572084..38575827,4	K562	blood:
6	chr17:38455293..38459575-chr17:38570214..38574368,4	MCF-7	breast:
7	chr17:38571032..38573663-chr17:38599066..38602957,3	K562	blood:
8	chr17:38511730..38513729-chr17:38571391..38573347,2	MCF-7	breast:
9	chr17:38471740..38479367-chr17:38570407..38574457,9	MCF-7	breast:
10	chr17:38571221..38576195-chr17:38597437..38603899,8	K562	blood:
11	chr17:38572709..38573531-chr17:38688353..38689310,2	K562	blood:
12	chr17:38519071..38521523-chr17:38572768..38574646,2	MCF-7	breast:
13	chr17:38571667..38573665-chr17:38677679..38680655,2	K562	blood:
14	chr17:38465403..38467512-chr17:38572698..38575190,2	MCF-7	breast:
15	chr17:38518117..38522815-chr17:38572084..38576075,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000141753	Chromatin interaction
ENSG00000131746	Chromatin interaction
ENSG00000183153	Chromatin interaction
ENSG00000131759	Chromatin interaction
ENSG00000270145	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11540720	1.00[CEU][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11867902	1.00[CEU][hapmap]
rs12103533	1.00[EUR][1000 genomes]
rs15685	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs16965669	1.00[EUR][1000 genomes]
rs16965734	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16965736	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16965748	1.00[CEU][hapmap];0.82[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16965774	1.00[CEU][hapmap];0.91[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17616879	0.92[EUR][1000 genomes]
rs17617263	0.92[EUR][1000 genomes]
rs17678959	0.92[EUR][1000 genomes]
rs17678990	0.92[EUR][1000 genomes]
rs17679086	0.92[EUR][1000 genomes]
rs17679361	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17680217	0.92[EUR][1000 genomes]
rs17680410	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17680507	0.92[EUR][1000 genomes]
rs17680624	0.92[EUR][1000 genomes]
rs2012667	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2229773	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs28362320	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28362321	0.92[EUR][1000 genomes]
rs33998939	0.92[EUR][1000 genomes]
rs34270904	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34300454	1.00[CEU][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35783632	0.92[EUR][1000 genomes]
rs35898909	0.92[EUR][1000 genomes]
rs41283423	0.92[EUR][1000 genomes]
rs4134993	0.92[EUR][1000 genomes]
rs4134998	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs4135005	0.92[EUR][1000 genomes]
rs4135007	0.92[EUR][1000 genomes]
rs4135012	0.92[EUR][1000 genomes]
rs4135019	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs4135021	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs4135027	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs4135030	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs45612441	0.92[EUR][1000 genomes]
rs8067519	1.00[EUR][1000 genomes]
rs8071687	1.00[EUR][1000 genomes]
rs9889905	0.85[EUR][1000 genomes]
rs9891944	0.92[EUR][1000 genomes]
rs9894364	1.00[EUR][1000 genomes]
rs9894807	0.85[EUR][1000 genomes]
rs9898500	1.00[EUR][1000 genomes]
rs9903293	1.00[EUR][1000 genomes]
rs9909777	1.00[EUR][1000 genomes]
rs9909811	0.85[EUR][1000 genomes]
rs9910373	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833445	chr17:38466474-38637969	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv908223	chr17:38530799-38609187	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38546000-38573600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr17:38552200-38573400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr17:38571400-38573400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr17:38571600-38573400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr17:38571600-38573400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr17:38571600-38574000	Transcr. at gene 5' and 3'	Dnd41	blood
7	chr17:38571600-38574800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr17:38571600-38574800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr17:38571800-38573400	Weak transcription	Liver	Liver
10	chr17:38571800-38573400	Flanking Active TSS	NHEK	skin
11	chr17:38572000-38573600	Weak transcription	Colon Smooth Muscle	Colon
12	chr17:38572000-38574600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr17:38572200-38573400	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr17:38572200-38573400	Active TSS	Brain Germinal Matrix	brain
15	chr17:38572200-38575000	Active TSS	Fetal Brain Female	brain
16	chr17:38572400-38573400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr17:38572400-38573400	Flanking Active TSS	HUVEC	blood vessel
18	chr17:38572600-38574400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr17:38572600-38574600	Active TSS	H1 Cell Line	embryonic stem cell
20	chr17:38572600-38574800	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr17:38572600-38575000	Active TSS	Thymus	Thymus
22	chr17:38572800-38573400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr17:38572800-38573400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr17:38572800-38573400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr17:38572800-38573400	Flanking Active TSS	Fetal Heart	heart
26	chr17:38572800-38573400	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr17:38572800-38573600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr17:38572800-38573600	Flanking Active TSS	Osteobl	bone
29	chr17:38572800-38574000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr17:38572800-38574000	Flanking Active TSS	Fetal Stomach	stomach
31	chr17:38572800-38574600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr17:38572800-38574800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr17:38572800-38574800	Active TSS	Fetal Kidney	kidney
34	chr17:38573000-38573400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr17:38573000-38573400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr17:38573000-38573400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr17:38573000-38573400	Active TSS	Fetal Muscle Trunk	muscle
38	chr17:38573000-38573400	Active TSS	Placenta	Placenta
39	chr17:38573000-38573400	Flanking Active TSS	Fetal Thymus	thymus
40	chr17:38573000-38573600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr17:38573000-38573600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr17:38573000-38573800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr17:38573000-38573800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr17:38573000-38573800	Flanking Active TSS	Fetal Intestine Small	intestine
45	chr17:38573000-38574000	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr17:38573000-38574000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr17:38573000-38574400	Active TSS	Hela-S3	cervix
48	chr17:38573000-38574400	Active TSS	K562	blood
49	chr17:38573000-38574600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr17:38573000-38574600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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