Variant report

Variant	rs1687921
Chromosome Location	chr1:94800245-94800246
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:1)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94524835..94527724-chr1:94798552..94800345,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ABCD3-2	chr1:94800068-94800425	XLOC_000301
2	lnc-ABCD3-2	chr1:94800068-94800251	XLOC_000301
3	lnc-ABCD3-2	chr1:94800068-94800354	XLOC_000301
4	lnc-ABCD3-2	chr1:94800068-94800404	XLOC_000301
5	lnc-ABCD3-2	chr1:94800068-94800394	NONHSAT004580
6	lnc-ABCD3-2	chr1:94800068-94800394	NONHSAT004579

No data

Variant related genes	Relation type
ENSG00000198691	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10399782	1.00[EUR][1000 genomes]
rs10782981	1.00[EUR][1000 genomes]
rs10874845	1.00[EUR][1000 genomes]
rs1146506	1.00[EUR][1000 genomes]
rs1146516	1.00[EUR][1000 genomes]
rs11800866	1.00[EUR][1000 genomes]
rs11801203	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11801251	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11802178	1.00[EUR][1000 genomes]
rs11802887	1.00[EUR][1000 genomes]
rs11802896	0.83[YRI][hapmap]
rs11803374	1.00[EUR][1000 genomes]
rs11803749	1.00[EUR][1000 genomes]
rs11805161	1.00[EUR][1000 genomes]
rs11806223	1.00[EUR][1000 genomes]
rs12069536	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1318396	1.00[EUR][1000 genomes]
rs1330856	1.00[EUR][1000 genomes]
rs1330858	1.00[EUR][1000 genomes]
rs1330859	1.00[EUR][1000 genomes]
rs1330860	1.00[EUR][1000 genomes]
rs1337856	1.00[EUR][1000 genomes]
rs1337857	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1361124	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1411697	1.00[EUR][1000 genomes]
rs1411703	1.00[EUR][1000 genomes]
rs1571645	1.00[EUR][1000 genomes]
rs1577920	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1616972	1.00[EUR][1000 genomes]
rs1617363	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1617719	1.00[EUR][1000 genomes]
rs1687922	1.00[EUR][1000 genomes]
rs1687923	1.00[EUR][1000 genomes]
rs1687925	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1687926	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1687929	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1687934	1.00[EUR][1000 genomes]
rs1687938	1.00[EUR][1000 genomes]
rs1687939	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1687942	1.00[EUR][1000 genomes]
rs1687945	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1687953	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1687955	1.00[EUR][1000 genomes]
rs1687958	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1687959	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1687960	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1687967	1.00[EUR][1000 genomes]
rs1687969	1.00[EUR][1000 genomes]
rs17111347	1.00[EUR][1000 genomes]
rs1749540	1.00[EUR][1000 genomes]
rs1756247	1.00[EUR][1000 genomes]
rs1756256	1.00[EUR][1000 genomes]
rs1756258	1.00[EUR][1000 genomes]
rs1756263	1.00[EUR][1000 genomes]
rs1756264	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1756265	0.83[YRI][hapmap]
rs1765616	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1765624	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1765625	1.00[EUR][1000 genomes]
rs1765631	1.00[EUR][1000 genomes]
rs1765633	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1765634	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1765637	0.88[AFR][1000 genomes]
rs1765638	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1765639	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1765642	0.94[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1765653	1.00[EUR][1000 genomes]
rs2021993	1.00[EUR][1000 genomes]
rs2094824	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2391471	1.00[EUR][1000 genomes]
rs2483792	1.00[EUR][1000 genomes]
rs2774921	1.00[EUR][1000 genomes]
rs2798944	1.00[EUR][1000 genomes]
rs28494821	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2893296	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2971948	1.00[EUR][1000 genomes]
rs479627	1.00[EUR][1000 genomes]
rs484420	1.00[EUR][1000 genomes]
rs4847297	1.00[EUR][1000 genomes]
rs512648	1.00[EUR][1000 genomes]
rs513976	1.00[EUR][1000 genomes]
rs529642	1.00[EUR][1000 genomes]
rs59778098	1.00[EUR][1000 genomes]
rs598962	1.00[EUR][1000 genomes]
rs610088	1.00[EUR][1000 genomes]
rs630382	1.00[EUR][1000 genomes]
rs6660037	1.00[EUR][1000 genomes]
rs6673287	1.00[EUR][1000 genomes]
rs6684237	1.00[EUR][1000 genomes]
rs698945	1.00[EUR][1000 genomes]
rs7417304	1.00[EUR][1000 genomes]
rs7548077	1.00[EUR][1000 genomes]
rs768967	1.00[EUR][1000 genomes]
rs860909	1.00[EUR][1000 genomes]
rs9432270	1.00[EUR][1000 genomes]
rs9432441	1.00[EUR][1000 genomes]
rs9432688	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428510	chr1:94709575-94866655	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94788600-94800800	Weak transcription	Pancreas	Pancrea
2	chr1:94793200-94800600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:94796000-94800400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:94796000-94800600	Weak transcription	Adipose Nuclei	Adipose
5	chr1:94796000-94800600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:94796000-94804600	Weak transcription	Fetal Thymus	thymus
7	chr1:94796000-94804800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr1:94796000-94807800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:94796200-94800400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:94796600-94804800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:94798200-94801400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:94798200-94802000	Enhancers	Osteobl	bone
13	chr1:94798200-94802400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr1:94798400-94801000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:94798400-94801000	Enhancers	HSMMtube	muscle
16	chr1:94798400-94801200	Enhancers	A549	lung
17	chr1:94798400-94801200	Enhancers	HSMM	muscle
18	chr1:94798400-94801400	Enhancers	HMEC	breast
19	chr1:94798600-94801200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:94798600-94801200	Enhancers	NHLF	lung
21	chr1:94798800-94801000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:94798800-94801000	Enhancers	Placenta	Placenta
23	chr1:94798800-94801000	Enhancers	Fetal Stomach	stomach
24	chr1:94799000-94800400	Enhancers	GM12878-XiMat	blood
25	chr1:94799000-94800800	Weak transcription	HUVEC	blood vessel
26	chr1:94799000-94805200	Weak transcription	Lung	lung
27	chr1:94799200-94800800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr1:94799200-94801200	Weak transcription	NHEK	skin
29	chr1:94799200-94812000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:94799800-94800400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:94799800-94800400	Enhancers	Fetal Muscle Leg	muscle
32	chr1:94799800-94800800	Enhancers	NH-A	brain
33	chr1:94799800-94801000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:94800000-94801000	Enhancers	HepG2	liver
35	chr1:94800000-94801000	Enhancers	NHDF-Ad	bronchial
36	chr1:94800000-94801200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:94800000-94804800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:94800200-94800400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr1:94800200-94800400	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr1:94800200-94800600	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr1:94800200-94800600	Enhancers	Stomach Smooth Muscle	stomach
42	chr1:94800200-94801000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:94800200-94801000	Enhancers	Left Ventricle	heart
44	chr1:94800200-94801200	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr1:94800200-94801400	Enhancers	Fetal Heart	heart
46	chr1:94800200-94801400	Enhancers	Fetal Kidney	kidney
47	chr1:94800200-94801600	Enhancers	Placenta Amnion	Placenta Amnion
48	chr1:94800200-94801600	Enhancers	Rectal Smooth Muscle	rectum

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