Variant report

Variant	rs7184248
Chromosome Location	chr16:70373603-70373604
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70365572..70369615-chr16:70370399..70374531,4	K562	blood:
2	chr16:70368628..70371487-chr16:70373484..70375931,2	MCF-7	breast:
3	chr16:70367181..70369957-chr16:70373031..70374921,2	K562	blood:
4	chr16:70369367..70371961-chr16:70371980..70374607,2	MCF-7	breast:

Extended variants
information (count: 134 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:130)

rs_ID	r²[population]
rs11537667	0.87[AFR][1000 genomes]
rs11859257	0.85[AFR][1000 genomes]
rs11859827	0.93[AFR][1000 genomes]
rs11859870	1.00[EUR][1000 genomes]
rs11860870	0.97[AFR][1000 genomes]
rs11860922	0.82[AFR][1000 genomes]
rs11861097	1.00[EUR][1000 genomes]
rs11862053	0.89[AFR][1000 genomes]
rs11862150	0.83[AFR][1000 genomes]
rs11862188	0.83[AFR][1000 genomes]
rs11864326	0.81[AMR][1000 genomes]
rs11865564	0.81[AMR][1000 genomes]
rs11866378	0.91[AFR][1000 genomes]
rs11866451	0.82[AFR][1000 genomes]
rs16970133	1.00[EUR][1000 genomes]
rs16970141	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs16970147	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970149	1.00[EUR][1000 genomes]
rs16970151	1.00[EUR][1000 genomes]
rs16970152	1.00[EUR][1000 genomes]
rs16970153	1.00[EUR][1000 genomes]
rs16970159	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970165	1.00[EUR][1000 genomes]
rs16970169	0.81[AMR][1000 genomes]
rs16970361	0.89[AFR][1000 genomes]
rs16970609	0.96[AFR][1000 genomes]
rs17878609	0.81[AMR][1000 genomes]
rs17880268	0.81[AMR][1000 genomes]
rs17886064	1.00[AMR][1000 genomes]
rs4999488	0.81[AMR][1000 genomes]
rs55657328	0.89[AFR][1000 genomes]
rs55805938	0.91[AFR][1000 genomes]
rs55819743	0.83[AFR][1000 genomes]
rs55936739	0.89[AFR][1000 genomes]
rs55963712	1.00[EUR][1000 genomes]
rs55971559	0.81[AFR][1000 genomes]
rs56043981	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56090000	0.93[AFR][1000 genomes]
rs56096542	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56217164	0.96[AFR][1000 genomes]
rs56234537	0.96[AFR][1000 genomes]
rs56348821	1.00[EUR][1000 genomes]
rs56980444	0.89[AMR][1000 genomes]
rs57150196	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57279408	0.96[AFR][1000 genomes]
rs57320283	0.82[AFR][1000 genomes]
rs57422630	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57492770	1.00[EUR][1000 genomes]
rs57623576	0.96[AFR][1000 genomes]
rs58055772	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58131227	0.87[AFR][1000 genomes]
rs58319566	0.82[AFR][1000 genomes]
rs58328210	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58434182	1.00[EUR][1000 genomes]
rs59116576	1.00[EUR][1000 genomes]
rs59260159	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59384897	0.91[AFR][1000 genomes]
rs59552467	1.00[EUR][1000 genomes]
rs59612351	0.84[AFR][1000 genomes]
rs59791510	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59849898	0.87[AFR][1000 genomes]
rs59928915	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs60011151	1.00[EUR][1000 genomes]
rs60103946	0.87[AFR][1000 genomes]
rs60387488	1.00[EUR][1000 genomes]
rs60426209	0.91[AFR][1000 genomes]
rs60523557	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60841206	0.82[AFR][1000 genomes]
rs61172065	0.92[AFR][1000 genomes]
rs61266247	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs61284127	1.00[EUR][1000 genomes]
rs61319691	0.81[AMR][1000 genomes]
rs61369696	1.00[EUR][1000 genomes]
rs61391917	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61594809	0.91[AFR][1000 genomes]
rs6499306	1.00[EUR][1000 genomes]
rs6499307	1.00[EUR][1000 genomes]
rs6499309	0.87[AFR][1000 genomes]
rs6499314	0.81[AMR][1000 genomes]
rs7184643	1.00[EUR][1000 genomes]
rs7184759	1.00[EUR][1000 genomes]
rs7185665	0.91[AFR][1000 genomes]
rs7186024	0.91[AFR][1000 genomes]
rs7189535	1.00[EUR][1000 genomes]
rs7190921	0.90[AFR][1000 genomes]
rs7195104	1.00[EUR][1000 genomes]
rs7195567	0.98[AFR][1000 genomes]
rs7198923	1.00[EUR][1000 genomes]
rs7199043	1.00[EUR][1000 genomes]
rs7199346	0.81[AMR][1000 genomes]
rs7203548	1.00[EUR][1000 genomes]
rs7203761	1.00[EUR][1000 genomes]
rs7203772	0.90[AMR][1000 genomes]
rs7204800	0.93[AFR][1000 genomes]
rs7205871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7205990	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7206347	0.81[AMR][1000 genomes]
rs74024176	0.81[AFR][1000 genomes]
rs74024180	0.87[AFR][1000 genomes]
rs74024182	0.83[AFR][1000 genomes]
rs74024184	0.89[AFR][1000 genomes]
rs74024185	0.89[AFR][1000 genomes]
rs74024186	0.91[AFR][1000 genomes]
rs74024187	0.91[AFR][1000 genomes]
rs74024191	0.91[AFR][1000 genomes]
rs74024193	0.94[AFR][1000 genomes]
rs74024196	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74024199	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024200	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74026022	0.81[AMR][1000 genomes]
rs74026026	1.00[EUR][1000 genomes]
rs74026033	0.81[AMR][1000 genomes]
rs8044699	1.00[EUR][1000 genomes]
rs8045571	0.83[AFR][1000 genomes]
rs8045769	1.00[EUR][1000 genomes]
rs8046253	0.81[AMR][1000 genomes]
rs8046280	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8046662	0.85[AFR][1000 genomes]
rs8049046	1.00[AMR][1000 genomes]
rs8049361	1.00[EUR][1000 genomes]
rs8050252	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8051869	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8053040	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8053657	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs8053883	1.00[EUR][1000 genomes]
rs8056811	0.81[AMR][1000 genomes]
rs8058032	1.00[EUR][1000 genomes]
rs8062602	0.81[AMR][1000 genomes]
rs8063749	0.91[AFR][1000 genomes]
rs9673623	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv482577	chr16:70329048-70516069	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
3	esv3390669	chr16:70363244-70400179	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv833272	chr16:70369769-70569723	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70334200-70379800	Weak transcription	Stomach Mucosa	stomach
2	chr16:70335800-70374200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr16:70346200-70376000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:70349600-70379800	Weak transcription	Fetal Brain Male	brain
5	chr16:70349800-70374600	Strong transcription	Fetal Muscle Leg	muscle
6	chr16:70357200-70380200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr16:70363200-70374400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr16:70367000-70376000	Weak transcription	K562	blood
9	chr16:70368200-70380200	Weak transcription	Small Intestine	intestine
10	chr16:70368400-70379600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr16:70368400-70379800	Weak transcription	Hela-S3	cervix
12	chr16:70368800-70379800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr16:70368800-70379800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr16:70368800-70379800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr16:70369000-70374000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr16:70369000-70375600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr16:70369000-70375600	Weak transcription	Fetal Heart	heart
18	chr16:70369000-70376000	Weak transcription	Psoas Muscle	Psoas
19	chr16:70369000-70379400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr16:70369000-70379600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr16:70369000-70379600	Weak transcription	A549	lung
22	chr16:70369000-70379800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr16:70369000-70379800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr16:70369000-70379800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr16:70369000-70379800	Weak transcription	Aorta	Aorta
26	chr16:70369000-70379800	Weak transcription	Colon Smooth Muscle	Colon
27	chr16:70369000-70379800	Weak transcription	Esophagus	oesophagus
28	chr16:70369000-70379800	Weak transcription	Fetal Kidney	kidney
29	chr16:70369000-70379800	Weak transcription	Fetal Lung	lung
30	chr16:70369000-70379800	Weak transcription	Gastric	stomach
31	chr16:70369000-70379800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr16:70369000-70379800	Weak transcription	HSMMtube	muscle
33	chr16:70369000-70379800	Weak transcription	NH-A	brain
34	chr16:70369000-70379800	Weak transcription	NHDF-Ad	bronchial
35	chr16:70369200-70379000	Weak transcription	HepG2	liver
36	chr16:70369200-70379200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr16:70369200-70379600	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr16:70369200-70379600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr16:70369200-70379600	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr16:70369200-70379600	Weak transcription	GM12878-XiMat	blood
41	chr16:70369200-70379600	Weak transcription	HMEC	breast
42	chr16:70369200-70379800	Weak transcription	Primary T cells from cord blood	blood
43	chr16:70369200-70379800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr16:70369200-70379800	Weak transcription	Brain Substantia Nigra	brain
45	chr16:70369400-70375600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr16:70369400-70375600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr16:70369400-70375800	Weak transcription	Left Ventricle	heart
48	chr16:70369400-70375800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr16:70369400-70379200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr16:70369400-70379200	Weak transcription	Pancreas	Pancrea

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