Variant report

Variant	rs2303224
Chromosome Location	chr16:71692443-71692444
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:71686341..71688675-chr16:71691645..71694009,2	K562	blood:

Extended variants
information (count: 139 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:136)

rs_ID	r²[population]
rs1035545	1.00[CEU][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10500559	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1058747	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10775326	0.84[ASN][1000 genomes]
rs11075889	0.82[EUR][1000 genomes]
rs11075891	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11075892	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11075895	0.84[ASN][1000 genomes]
rs11075900	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11075902	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11539980	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11641873	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11643690	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11645467	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11646635	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11646748	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11647873	0.93[ASN][1000 genomes]
rs11648240	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11648674	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11862798	0.91[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12051443	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12051449	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12051506	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12444484	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12447856	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12448226	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12597065	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12598902	0.96[CEU][hapmap]
rs12920243	1.00[CEU][hapmap];0.86[YRI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12924258	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12925587	0.82[EUR][1000 genomes]
rs12926987	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12927320	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12930206	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs12930418	0.93[ASN][1000 genomes]
rs12932850	1.00[CEU][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12935426	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1392483	1.00[CEU][hapmap];0.83[YRI][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1392487	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1477386	0.88[CEU][hapmap];0.80[ASN][1000 genomes]
rs1582589	1.00[CEU][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs172649	0.82[CEU][hapmap]
rs172650	0.87[CEU][hapmap];0.82[ASN][1000 genomes]
rs2032920	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2036337	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2036338	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2113222	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2270830	1.00[CEU][hapmap];0.83[YRI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2270831	1.00[CEU][hapmap];0.87[YRI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2270832	0.95[CEU][hapmap];0.80[YRI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2278031	1.00[CEU][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2303225	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2334879	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2334883	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2334884	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2432519	0.82[ASN][1000 genomes]
rs2432520	0.87[CEU][hapmap];0.82[ASN][1000 genomes]
rs2432524	0.91[CEU][hapmap]
rs28439683	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28582831	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28636800	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28704189	0.82[EUR][1000 genomes]
rs34161748	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34401601	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34734042	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34764568	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35173463	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35939203	0.80[ASN][1000 genomes]
rs3751817	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3752681	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3829537	0.91[CEU][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3925658	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4444347	0.96[YRI][hapmap]
rs4788442	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4788544	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4788546	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4788547	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4788549	1.00[CEU][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4788551	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4788552	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4788554	0.89[EUR][1000 genomes]
rs4788558	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4788809	0.91[CEU][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4788812	0.92[CEU][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4788814	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4788817	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4788821	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4788826	1.00[CEU][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4788827	1.00[CEU][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57997630	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60881203	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62053077	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62053078	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62053107	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62053108	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7185997	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7186717	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7187877	0.80[ASN][1000 genomes]
rs7195840	0.81[ASN][1000 genomes]
rs7201754	0.86[YRI][hapmap]
rs7206039	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7404381	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8048057	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8048210	1.00[CEU][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8052489	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8052999	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8056823	0.93[ASN][1000 genomes]
rs8060867	1.00[CEU][hapmap];0.87[YRI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8061613	0.80[ASN][1000 genomes]
rs8062441	0.84[EUR][1000 genomes]
rs8062477	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8203	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs918721	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs951453	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs951939	1.00[CEU][hapmap];0.87[YRI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs979789	0.88[ASN][1000 genomes]
rs9921270	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9922054	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9923264	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9923336	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9925069	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9925228	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9927336	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9927437	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9930543	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9931717	0.81[EUR][1000 genomes]
rs9932415	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9933961	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9936903	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9937280	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9939455	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9939471	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9939658	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9940142	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9940217	1.00[CEU][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9940990	0.96[CEU][hapmap];0.81[EUR][1000 genomes]

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	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1063338	chr16:71612346-71752968	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv962218	chr16:71645202-71727606	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 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	chr16:71668000-71703000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr16:71671800-71704000	Weak transcription	Fetal Brain Male	brain
3	chr16:71672000-71741400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr16:71674800-71704600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr16:71675000-71724000	Weak transcription	Esophagus	oesophagus
6	chr16:71676800-71693600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr16:71679000-71693000	Strong transcription	HSMM	muscle
8	chr16:71679200-71693000	Strong transcription	Duodenum Smooth Muscle	Duodenum
9	chr16:71681000-71693000	Strong transcription	Stomach Smooth Muscle	stomach
10	chr16:71681200-71693000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr16:71681200-71693600	Strong transcription	Fetal Intestine Large	intestine
12	chr16:71681200-71710800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr16:71681200-71716000	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr16:71681400-71692800	Strong transcription	Primary B cells from peripheral blood	blood
15	chr16:71681400-71693200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr16:71681400-71693400	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr16:71681400-71694200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr16:71682200-71692600	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr16:71682800-71698000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr16:71683000-71693000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr16:71683800-71692600	Weak transcription	GM12878-XiMat	blood
22	chr16:71683800-71704800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr16:71683800-71756600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr16:71684000-71697800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr16:71684000-71704000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr16:71685200-71741200	Weak transcription	Psoas Muscle	Psoas
27	chr16:71685400-71693000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr16:71685400-71693000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr16:71685400-71693000	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr16:71685400-71693600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr16:71685400-71718800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr16:71685800-71693000	Strong transcription	Liver	Liver
33	chr16:71685800-71693600	Strong transcription	Fetal Muscle Trunk	muscle
34	chr16:71685800-71726000	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr16:71686000-71692800	Strong transcription	Brain Inferior Temporal Lobe	brain
36	chr16:71686000-71693200	Strong transcription	Osteobl	bone
37	chr16:71686200-71693000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr16:71686200-71705400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr16:71686400-71693000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr16:71686400-71693000	Strong transcription	Adipose Nuclei	Adipose
41	chr16:71686400-71693000	Strong transcription	HepG2	liver
42	chr16:71686400-71693600	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr16:71686400-71693600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr16:71686600-71692800	Strong transcription	Fetal Muscle Leg	muscle
45	chr16:71686800-71693000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr16:71686800-71693200	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr16:71686800-71693600	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr16:71686800-71703000	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr16:71686800-71717200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr16:71687000-71700200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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