Variant report

Variant	rs16860403
Chromosome Location	chr1:168312592-168312593
allele	A/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:9)
LncRNA
region (count:0)
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	chr1:168300197..168302893-chr1:168310234..168313350,3	K562	blood:
2	chr1:168311865..168312623-chr1:168391614..168392141,4	K562	blood:
3	chr1:168054135..168054694-chr1:168312045..168312628,2	K562	blood:
4	chr1:168311642..168312682-chr1:168331951..168332907,6	K562	blood:
5	chr1:168311615..168313900-chr1:168348090..168350975,2	MCF-7	breast:
6	chr1:168204263..168205021-chr1:168312077..168312651,2	K562	blood:
7	chr1:168300197..168303468-chr1:168311046..168313350,3	K562	blood:
8	chr1:168312525..168314328-chr1:168315876..168317472,2	K562	blood:
9	chr1:168311820..168313033-chr1:168408760..168409687,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000228697	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10465552	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16860434	0.81[ASN][1000 genomes]
rs16860445	1.00[CHB][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs1886004	0.81[ASN][1000 genomes]
rs2076061	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2223293	0.81[ASN][1000 genomes]
rs2235299	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2268561	0.81[ASN][1000 genomes]
rs2268563	0.88[ASN][1000 genomes]
rs2268565	0.88[ASN][1000 genomes]
rs2268566	0.88[ASN][1000 genomes]
rs2284758	0.92[CHB][hapmap];0.93[JPT][hapmap]
rs2284759	0.92[CHB][hapmap];0.92[JPT][hapmap]
rs2284760	0.92[CHB][hapmap];0.93[JPT][hapmap]
rs2284762	0.94[ASN][1000 genomes]
rs34601587	0.82[AFR][1000 genomes]
rs57956428	0.81[ASN][1000 genomes]
rs59227453	0.92[ASN][1000 genomes]
rs6427125	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6672853	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7512612	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7512814	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7512951	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7528796	0.88[EUR][1000 genomes]
rs7551330	0.87[ASN][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	nsv831825	chr1:168179175-168353062	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1002007	chr1:168179463-168375973	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168283800-168312800	Weak transcription	Spleen	Spleen
2	chr1:168310000-168312800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr1:168310600-168312600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:168310600-168313000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:168310600-168313000	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr1:168310800-168312800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:168311200-168313200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:168311600-168312600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr1:168311600-168312800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr1:168311600-168312800	Enhancers	K562	blood
11	chr1:168311600-168313000	Enhancers	Primary T cells fromperipheralblood	blood
12	chr1:168311600-168313000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr1:168311600-168313000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr1:168311600-168313800	Enhancers	Placenta Amnion	Placenta Amnion
15	chr1:168311600-168314200	Enhancers	Colon Smooth Muscle	Colon
16	chr1:168311800-168312600	Enhancers	Primary T cells from cord blood	blood
17	chr1:168311800-168312600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:168311800-168312600	Flanking Active TSS	Brain Hippocampus Middle	brain
19	chr1:168311800-168312800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr1:168311800-168312800	Enhancers	Fetal Intestine Small	intestine
21	chr1:168311800-168312800	Enhancers	Fetal Lung	lung
22	chr1:168311800-168313400	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr1:168311800-168313600	Enhancers	Fetal Brain Female	brain
24	chr1:168311800-168314200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:168312000-168312600	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr1:168312000-168312800	Enhancers	Fetal Stomach	stomach
27	chr1:168312000-168313000	Weak transcription	Aorta	Aorta
28	chr1:168312000-168313600	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr1:168312000-168313600	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr1:168312000-168313800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr1:168312000-168317200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr1:168312000-168317600	Weak transcription	Psoas Muscle	Psoas
33	chr1:168312000-168317800	Weak transcription	Left Ventricle	heart
34	chr1:168312200-168312800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:168312200-168318000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr1:168312200-168318200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr1:168312200-168318200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr1:168312400-168312600	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr1:168312400-168312600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:168312400-168312600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:168312400-168312600	Enhancers	Stomach Smooth Muscle	stomach
42	chr1:168312400-168312600	Flanking Active TSS	HepG2	liver
43	chr1:168312400-168312800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr1:168312400-168312800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:168312400-168312800	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr1:168312400-168312800	Enhancers	Dnd41	blood
47	chr1:168312400-168313000	Enhancers	Ovary	ovary
48	chr1:168312400-168313200	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr1:168312400-168313200	Enhancers	Brain Anterior Caudate	brain
50	chr1:168312400-168313200	Enhancers	Brain Inferior Temporal Lobe	brain

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