Variant report

Variant	rs16893099
Chromosome Location	chr4:16158193-16158194
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:16150924..16154971-chr4:16155826..16158678,3	K562	blood:
2	chr4:16152012..16153677-chr4:16157238..16159911,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10034719	0.86[ASN][1000 genomes]
rs10516298	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10939653	0.87[JPT][hapmap]
rs11724076	0.95[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11724423	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11724467	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11731602	0.83[ASN][1000 genomes]
rs11736424	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11736827	0.95[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12504884	0.82[ASN][1000 genomes]
rs12506478	0.85[ASN][1000 genomes]
rs12513244	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12643544	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12645055	0.85[AFR][1000 genomes]
rs12651110	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1373112	0.87[JPT][hapmap]
rs1662652	0.90[ASN][1000 genomes]
rs16893119	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16893138	0.87[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs16893143	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16893144	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs16893147	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16893158	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs317874	0.84[JPT][hapmap]
rs35851218	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs56023844	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs56218994	0.83[ASN][1000 genomes]
rs57089965	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs58047733	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs60460559	0.95[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs60768295	0.95[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs73128416	0.81[AFR][1000 genomes]
rs73128422	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73128457	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73130433	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs73130439	0.83[ASN][1000 genomes]
rs73130445	0.95[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs73130449	0.95[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs73130451	0.95[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs73130453	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs73130456	0.95[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs894639	0.93[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998299	chr4:16031459-16226466	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1004821	chr4:16055996-16830629	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537046	chr4:16055996-16830629	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16150200-16160800	Weak transcription	Primary B cells from cord blood	blood
2	chr4:16150800-16166600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:16152000-16161600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr4:16152000-16163800	Weak transcription	Thymus	Thymus
5	chr4:16152800-16159800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr4:16153000-16163600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr4:16153000-16164400	Weak transcription	NH-A	brain
8	chr4:16153200-16165200	Weak transcription	HSMM	muscle
9	chr4:16153600-16165600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr4:16154000-16159600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:16154400-16161600	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr4:16154400-16163000	Weak transcription	Primary T cells from cord blood	blood
13	chr4:16154800-16161800	Weak transcription	Brain Hippocampus Middle	brain
14	chr4:16154800-16164400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr4:16156000-16159200	Weak transcription	Lung	lung
16	chr4:16156000-16163200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr4:16157000-16163200	Enhancers	Fetal Heart	heart
18	chr4:16157000-16164400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr4:16157200-16166800	Weak transcription	Brain Angular Gyrus	brain
20	chr4:16157400-16158200	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr4:16157400-16158200	Enhancers	Fetal Stomach	stomach
22	chr4:16157400-16158200	Enhancers	Right Atrium	heart
23	chr4:16157400-16158400	Enhancers	Right Ventricle	heart
24	chr4:16157400-16161600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr4:16157400-16164200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr4:16157600-16158200	Enhancers	Colon Smooth Muscle	Colon
27	chr4:16157600-16159400	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr4:16157600-16161600	Enhancers	Fetal Intestine Small	intestine
29	chr4:16157600-16161800	Weak transcription	Adipose Nuclei	Adipose
30	chr4:16157600-16163600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr4:16157600-16164600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr4:16157800-16158200	Enhancers	Rectal Smooth Muscle	rectum
33	chr4:16157800-16158400	Enhancers	Stomach Smooth Muscle	stomach
34	chr4:16157800-16159200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr4:16157800-16159200	Weak transcription	Fetal Muscle Leg	muscle
36	chr4:16157800-16159400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr4:16157800-16159600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr4:16157800-16161600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr4:16157800-16164400	Weak transcription	Brain Anterior Caudate	brain
40	chr4:16157800-16164600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr4:16157800-16170600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr4:16157800-16180000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr4:16157800-16180400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr4:16158000-16158200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:16158000-16158200	Enhancers	Fetal Lung	lung
46	chr4:16158000-16158200	Enhancers	Spleen	Spleen
47	chr4:16158000-16159000	Weak transcription	Gastric	stomach
48	chr4:16158000-16159200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr4:16158000-16159200	Weak transcription	Placenta	Placenta
50	chr4:16158000-16159400	Weak transcription	Left Ventricle	heart

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