Variant report

Variant	rs16943870
Chromosome Location	chr17:45785400-45785401
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: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	chr17:45785203..45787542-chr17:49025018..49027418,2	MCF-7	breast:
2	chr17:45726608..45729781-chr17:45781854..45785868,4	K562	blood:
3	chr17:45784180..45787003-chr17:45793281..45796210,2	MCF-7	breast:
4	chr17:45769737..45776634-chr17:45782264..45787954,12	K562	blood:
5	chr17:45784401..45787875-chr17:45788488..45791249,4	MCF-7	breast:
6	chr17:45777137..45782464-chr17:45784675..45788885,8	K562	blood:
7	chr17:45770669..45772225-chr17:45782978..45785490,2	MCF-7	breast:
8	chr17:45757742..45760648-chr17:45785190..45787217,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000108424	Chromatin interaction
ENSG00000264558	Chromatin interaction
ENSG00000263766	Chromatin interaction
ENSG00000198933	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12325797	1.00[ASW][hapmap];1.00[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13380818	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes]
rs16946878	1.00[ASW][hapmap]
rs28367129	1.00[AMR][1000 genomes]

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	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	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
3	nsv908571	chr17:45765249-45821510	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
4	esv3324718	chr17:45784978-45787926	Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16943870	HOXB9	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45773400-45785600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:45773400-45790600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr17:45775000-45790800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr17:45776600-45785600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr17:45778200-45785600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr17:45778600-45786000	Weak transcription	Aorta	Aorta
7	chr17:45778600-45788200	Weak transcription	HUVEC	blood vessel
8	chr17:45779000-45785400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr17:45779200-45785400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr17:45779400-45785800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr17:45779400-45786600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr17:45779400-45786800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr17:45779600-45785400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr17:45779600-45788000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:45781000-45785400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr17:45781000-45785400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr17:45781000-45785600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr17:45781000-45785600	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr17:45781000-45785600	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr17:45781000-45785600	Enhancers	Duodenum Mucosa	Duodenum
21	chr17:45781200-45785600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr17:45781400-45785400	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr17:45781400-45786000	Enhancers	Primary T cells fromperipheralblood	blood
24	chr17:45781600-45785400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr17:45781600-45787000	Genic enhancers	Fetal Muscle Leg	muscle
26	chr17:45781800-45785800	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr17:45781800-45785800	Enhancers	Right Atrium	heart
28	chr17:45781800-45786000	Enhancers	Left Ventricle	heart
29	chr17:45781800-45786000	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr17:45781800-45786800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr17:45782400-45785400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr17:45782400-45785600	Genic enhancers	Spleen	Spleen
33	chr17:45782400-45786000	Enhancers	Right Ventricle	heart
34	chr17:45782400-45786200	Enhancers	Fetal Heart	heart
35	chr17:45782600-45785600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr17:45782600-45790000	Weak transcription	A549	lung
37	chr17:45783200-45785600	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr17:45783400-45785400	Enhancers	Brain Hippocampus Middle	brain
39	chr17:45783400-45785600	Genic enhancers	Fetal Stomach	stomach
40	chr17:45783400-45785600	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr17:45783600-45785400	Enhancers	Brain Anterior Caudate	brain
42	chr17:45783600-45785400	Enhancers	Brain Cingulate Gyrus	brain
43	chr17:45783600-45785400	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr17:45783600-45785600	Enhancers	Lung	lung
45	chr17:45783600-45785600	Enhancers	HSMM	muscle
46	chr17:45783600-45785800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr17:45783800-45785400	Enhancers	Brain Angular Gyrus	brain
48	chr17:45783800-45785600	Enhancers	HSMMtube	muscle
49	chr17:45783800-45785800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr17:45783800-45785800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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