Variant report

Variant	rs16958635
Chromosome Location	chr18:45443713-45443714
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:45439344..45444269-chr18:45455068..45458587,5	K562	blood:
2	chr18:45442040..45444827-chr18:45449244..45451439,2	K562	blood:
3	chr18:45439535..45445304-chr18:45455068..45459362,9	K562	blood:
4	chr18:45441870..45444292-chr18:45451454..45453055,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175387	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1051066	1.00[EUR][1000 genomes]
rs16958447	1.00[EUR][1000 genomes]
rs16958453	1.00[EUR][1000 genomes]
rs16958460	1.00[EUR][1000 genomes]
rs16958463	1.00[EUR][1000 genomes]
rs16958475	1.00[EUR][1000 genomes]
rs16958497	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs16958498	1.00[ASW][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs16958499	1.00[ASW][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs16958520	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs16958543	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958545	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958551	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958553	1.00[GIH][hapmap]
rs16958554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958568	1.00[ASW][hapmap];1.00[GIH][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958577	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958585	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958599	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958615	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958643	1.00[ASW][hapmap];0.90[MKK][hapmap];0.82[YRI][hapmap];0.94[AFR][1000 genomes]
rs17815568	1.00[ASW][hapmap];0.90[MKK][hapmap];0.82[YRI][hapmap];0.94[AFR][1000 genomes]
rs1970666	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7232994	1.00[ASW][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];1.00[MKK][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72914353	0.97[AFR][1000 genomes]
rs8084846	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs948599	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];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	nsv909614	chr18:45419421-45478490	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45423200-45451400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr18:45433200-45455000	Weak transcription	Fetal Stomach	stomach
3	chr18:45433200-45455400	Weak transcription	Fetal Brain Male	brain
4	chr18:45433400-45446400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr18:45433400-45452200	Weak transcription	Fetal Lung	lung
6	chr18:45433600-45446000	Weak transcription	Placenta	Placenta
7	chr18:45434000-45446600	Weak transcription	Primary B cells from cord blood	blood
8	chr18:45434000-45454600	Weak transcription	Primary B cells from peripheral blood	blood
9	chr18:45435400-45452400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr18:45435600-45444400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr18:45435600-45455800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr18:45437200-45444800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr18:45438000-45444200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr18:45438400-45444800	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr18:45438600-45454600	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr18:45438800-45446000	Weak transcription	Dnd41	blood
17	chr18:45438800-45453400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr18:45439000-45443800	Enhancers	K562	blood
19	chr18:45439000-45444000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr18:45439000-45444400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr18:45439000-45444600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr18:45439000-45444800	Weak transcription	Small Intestine	intestine
23	chr18:45439000-45445000	Enhancers	A549	lung
24	chr18:45439000-45445200	Weak transcription	Thymus	Thymus
25	chr18:45439000-45452200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr18:45439000-45452800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr18:45439000-45452800	Weak transcription	Aorta	Aorta
28	chr18:45439000-45456200	Weak transcription	Esophagus	oesophagus
29	chr18:45439000-45456200	Weak transcription	Spleen	Spleen
30	chr18:45439200-45444400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr18:45439200-45444600	Weak transcription	Fetal Thymus	thymus
32	chr18:45439200-45446000	Weak transcription	Fetal Heart	heart
33	chr18:45439200-45453000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr18:45439200-45453400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr18:45439400-45446000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr18:45439400-45447200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr18:45439600-45444200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr18:45439600-45444400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr18:45439600-45444400	Weak transcription	Right Atrium	heart
40	chr18:45439600-45445600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr18:45439600-45445600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr18:45439600-45445800	Weak transcription	Gastric	stomach
43	chr18:45439600-45455400	Weak transcription	Fetal Muscle Leg	muscle
44	chr18:45439800-45445000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr18:45439800-45449600	Weak transcription	Right Ventricle	heart
46	chr18:45439800-45452800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr18:45439800-45454600	Weak transcription	Fetal Intestine Large	intestine
48	chr18:45439800-45456200	Weak transcription	Pancreas	Pancrea
49	chr18:45440000-45445400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr18:45440000-45452400	Weak transcription	Fetal Intestine Small	intestine

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