Variant report

Variant	rs74024188
Chromosome Location	chr16:70317804-70317805
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70315876..70318226-chr16:70381253..70382948,2	K562	blood:
2	chr16:70194744..70197032-chr16:70317749..70321532,3	K562	blood:
3	chr16:70302571..70304253-chr16:70316380..70318407,2	K562	blood:
4	chr16:70316535..70319262-chr16:70321753..70323880,3	MCF-7	breast:
5	chr16:70301578..70303718-chr16:70316070..70318288,2	MCF-7	breast:
6	chr16:70316213..70317972-chr16:70332773..70334830,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157349	Chromatin interaction
ENSG00000260537	Chromatin interaction
ENSG00000090861	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs11859191	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11859870	0.84[AFR][1000 genomes]
rs11861097	0.84[AMR][1000 genomes]
rs11861651	1.00[AMR][1000 genomes]
rs11862150	1.00[EUR][1000 genomes]
rs11862188	1.00[EUR][1000 genomes]
rs11863128	0.89[AFR][1000 genomes]
rs11863943	1.00[EUR][1000 genomes]
rs11864179	1.00[EUR][1000 genomes]
rs11865484	1.00[EUR][1000 genomes]
rs11865564	1.00[EUR][1000 genomes]
rs16970121	1.00[EUR][1000 genomes]
rs16970147	1.00[EUR][1000 genomes]
rs16970302	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17878609	1.00[EUR][1000 genomes]
rs17878832	1.00[EUR][1000 genomes]
rs17880242	1.00[EUR][1000 genomes]
rs17881069	1.00[EUR][1000 genomes]
rs17881219	1.00[EUR][1000 genomes]
rs17883309	1.00[EUR][1000 genomes]
rs17886064	1.00[EUR][1000 genomes]
rs28438754	1.00[AMR][1000 genomes]
rs3096368	1.00[EUR][1000 genomes]
rs35904382	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3972077	1.00[AMR][1000 genomes]
rs3972090	0.92[AMR][1000 genomes]
rs55657328	1.00[EUR][1000 genomes]
rs55769835	1.00[EUR][1000 genomes]
rs55805938	1.00[EUR][1000 genomes]
rs55819743	1.00[EUR][1000 genomes]
rs55936739	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55963712	0.84[AMR][1000 genomes]
rs56050266	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56077083	1.00[AMR][1000 genomes]
rs56082018	1.00[EUR][1000 genomes]
rs56836664	0.81[AFR][1000 genomes]
rs56980444	1.00[EUR][1000 genomes]
rs57422630	1.00[EUR][1000 genomes]
rs57492770	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs58047061	1.00[EUR][1000 genomes]
rs58131227	1.00[EUR][1000 genomes]
rs58328210	1.00[EUR][1000 genomes]
rs58434182	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs58467558	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59260159	0.81[AFR][1000 genomes]
rs59272950	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59384897	1.00[EUR][1000 genomes]
rs59612351	1.00[EUR][1000 genomes]
rs60058920	0.92[AMR][1000 genomes]
rs60426209	1.00[EUR][1000 genomes]
rs60815141	1.00[EUR][1000 genomes]
rs61319691	1.00[EUR][1000 genomes]
rs6499307	0.84[AMR][1000 genomes]
rs6499312	1.00[EUR][1000 genomes]
rs6499313	1.00[EUR][1000 genomes]
rs6499314	1.00[EUR][1000 genomes]
rs6499315	1.00[EUR][1000 genomes]
rs7188864	1.00[EUR][1000 genomes]
rs7189535	0.84[AMR][1000 genomes]
rs7190536	1.00[EUR][1000 genomes]
rs7190921	1.00[EUR][1000 genomes]
rs7192000	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7195086	1.00[EUR][1000 genomes]
rs7198871	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7199346	1.00[EUR][1000 genomes]
rs7199655	1.00[EUR][1000 genomes]
rs7205918	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7206347	1.00[EUR][1000 genomes]
rs74024182	1.00[EUR][1000 genomes]
rs74024183	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024184	1.00[EUR][1000 genomes]
rs74024185	1.00[EUR][1000 genomes]
rs74024186	1.00[EUR][1000 genomes]
rs74026022	1.00[EUR][1000 genomes]
rs74026033	1.00[EUR][1000 genomes]
rs74026049	1.00[EUR][1000 genomes]
rs8045571	1.00[EUR][1000 genomes]
rs8046253	1.00[EUR][1000 genomes]
rs8046662	1.00[EUR][1000 genomes]
rs8046786	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8049046	1.00[EUR][1000 genomes]
rs8053657	1.00[EUR][1000 genomes]
rs8054203	1.00[EUR][1000 genomes]
rs8055675	0.84[AMR][1000 genomes]
rs8056048	1.00[AMR][1000 genomes]
rs8056196	0.84[AMR][1000 genomes]
rs8056811	1.00[EUR][1000 genomes]
rs8062602	1.00[EUR][1000 genomes]
rs8064090	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33745	chr16:70116599-70319873	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv833271	chr16:70185694-70353334	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1061286	chr16:70253809-70331407	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv906870	chr16:70295061-70323126	Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv906871	chr16:70302333-70375873	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv906872	chr16:70303418-70356746	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70286000-70318600	Strong transcription	Fetal Intestine Large	intestine
2	chr16:70286000-70319000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr16:70286000-70320000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr16:70286000-70320400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr16:70286000-70320400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr16:70286000-70320400	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr16:70286000-70320400	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr16:70286000-70320400	Strong transcription	Osteobl	bone
9	chr16:70286000-70321400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr16:70286000-70321400	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr16:70286200-70318600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr16:70286200-70319000	Strong transcription	Stomach Smooth Muscle	stomach
13	chr16:70286200-70319600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr16:70286200-70319800	Strong transcription	Fetal Muscle Trunk	muscle
15	chr16:70286200-70320000	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr16:70286200-70320400	Strong transcription	Fetal Muscle Leg	muscle
17	chr16:70286200-70320400	Strong transcription	Skeletal Muscle Male	skeletal muscle
18	chr16:70286200-70320600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr16:70286200-70321200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr16:70286200-70321400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr16:70286200-70321400	Strong transcription	Fetal Stomach	stomach
22	chr16:70286200-70321600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr16:70286400-70318000	Strong transcription	Adipose Nuclei	Adipose
24	chr16:70286400-70319800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr16:70286400-70319800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr16:70286400-70320000	Strong transcription	H9 Cell Line	embryonic stem cell
27	chr16:70286400-70320000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr16:70286400-70320400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr16:70287200-70321800	Weak transcription	Right Atrium	heart
30	chr16:70287400-70320000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr16:70288600-70320000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr16:70290200-70321600	Strong transcription	Fetal Intestine Small	intestine
33	chr16:70290600-70320600	Strong transcription	HepG2	liver
34	chr16:70291800-70319600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr16:70292000-70319800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr16:70292200-70319800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr16:70292200-70319800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr16:70296400-70319800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr16:70301200-70319800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr16:70306600-70320000	Strong transcription	HMEC	breast
41	chr16:70308400-70318600	Strong transcription	Thymus	Thymus
42	chr16:70308800-70318000	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr16:70308800-70319000	Strong transcription	Left Ventricle	heart
44	chr16:70309600-70319400	Strong transcription	Brain Substantia Nigra	brain
45	chr16:70309800-70319600	Strong transcription	Brain Anterior Caudate	brain
46	chr16:70309800-70319800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr16:70309800-70320400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
48	chr16:70310000-70318200	Strong transcription	A549	lung
49	chr16:70310000-70319200	Strong transcription	Lung	lung
50	chr16:70310200-70318200	Strong transcription	NHDF-Ad	bronchial

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