Variant report

Variant	rs1973217
Chromosome Location	chr16:47681432-47681433
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:47674595..47678731-chr16:47680937..47684112,3	K562	blood:
2	chr16:47680750..47683336-chr16:47685961..47688381,2	K562	blood:

Extended variants
information (count: 183 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:179)

rs_ID	r²[population]
rs1011532	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10521162	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10521163	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11860828	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11862096	0.83[AMR][1000 genomes]
rs11862281	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11863178	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1200967	0.81[EUR][1000 genomes]
rs12102942	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13330337	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13330510	0.81[EUR][1000 genomes]
rs13331748	0.81[EUR][1000 genomes]
rs13332058	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13332953	0.83[AMR][1000 genomes]
rs13334342	0.83[AMR][1000 genomes]
rs13334408	0.81[EUR][1000 genomes]
rs13335407	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13336200	0.81[EUR][1000 genomes]
rs13337281	0.81[EUR][1000 genomes]
rs13337972	0.81[EUR][1000 genomes]
rs13338447	0.81[EUR][1000 genomes]
rs1486419	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16942513	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16945387	0.83[AMR][1000 genomes]
rs16945408	0.83[AMR][1000 genomes]
rs16945413	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16945430	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16945438	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16945443	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16945460	0.81[EUR][1000 genomes]
rs16945474	0.81[EUR][1000 genomes]
rs16945509	0.81[EUR][1000 genomes]
rs16945543	0.81[EUR][1000 genomes]
rs16945557	0.81[EUR][1000 genomes]
rs16945594	0.81[EUR][1000 genomes]
rs16945617	0.81[EUR][1000 genomes]
rs16945621	0.81[EUR][1000 genomes]
rs16945624	0.81[EUR][1000 genomes]
rs16945629	0.81[EUR][1000 genomes]
rs16945641	0.81[EUR][1000 genomes]
rs16945644	0.81[EUR][1000 genomes]
rs16945648	0.81[EUR][1000 genomes]
rs16945650	0.81[EUR][1000 genomes]
rs16945652	0.81[EUR][1000 genomes]
rs16945661	0.81[EUR][1000 genomes]
rs16945662	0.81[EUR][1000 genomes]
rs1901903	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2046531	0.81[EUR][1000 genomes]
rs2054000	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2101373	0.81[EUR][1000 genomes]
rs2341961	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28375672	0.83[AMR][1000 genomes]
rs28385551	0.81[EUR][1000 genomes]
rs28409782	0.83[AMR][1000 genomes]
rs28448361	0.81[EUR][1000 genomes]
rs28497443	0.81[EUR][1000 genomes]
rs28542319	0.81[EUR][1000 genomes]
rs28577066	0.81[EUR][1000 genomes]
rs28590410	0.81[EUR][1000 genomes]
rs28597108	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28688420	0.81[EUR][1000 genomes]
rs28712810	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28715928	0.83[AMR][1000 genomes]
rs28754618	0.81[EUR][1000 genomes]
rs2880205	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28844885	0.83[AMR][1000 genomes]
rs28865322	0.81[EUR][1000 genomes]
rs4271615	0.81[EUR][1000 genomes]
rs56268318	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56687111	0.81[EUR][1000 genomes]
rs57930434	0.81[EUR][1000 genomes]
rs58190241	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs58550976	0.81[EUR][1000 genomes]
rs60049376	0.81[EUR][1000 genomes]
rs60200500	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61053970	0.81[EUR][1000 genomes]
rs61115457	0.81[EUR][1000 genomes]
rs61465994	0.81[EUR][1000 genomes]
rs6500318	0.83[AMR][1000 genomes]
rs6598598	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6598602	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6598613	0.81[EUR][1000 genomes]
rs7184358	0.81[EUR][1000 genomes]
rs7185753	0.81[EUR][1000 genomes]
rs7185915	0.83[AMR][1000 genomes]
rs7186530	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7186864	0.81[EUR][1000 genomes]
rs7186924	0.91[AMR][1000 genomes]
rs7187134	0.81[EUR][1000 genomes]
rs7187393	0.81[EUR][1000 genomes]
rs7189446	0.81[EUR][1000 genomes]
rs7190399	0.81[EUR][1000 genomes]
rs7193794	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7195074	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7196244	0.83[AMR][1000 genomes]
rs7197471	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7197659	0.81[EUR][1000 genomes]
rs7197882	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7199392	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7199696	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7200406	0.81[EUR][1000 genomes]
rs7201764	0.81[EUR][1000 genomes]
rs7202145	0.81[EUR][1000 genomes]
rs7202457	0.81[EUR][1000 genomes]
rs7202612	0.81[EUR][1000 genomes]
rs7203019	0.81[EUR][1000 genomes]
rs728884	0.83[AMR][1000 genomes]
rs73534789	0.81[EUR][1000 genomes]
rs73536704	0.81[EUR][1000 genomes]
rs73536711	0.81[EUR][1000 genomes]
rs73536770	0.83[AMR][1000 genomes]
rs73536906	0.81[EUR][1000 genomes]
rs73536913	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73536920	0.81[EUR][1000 genomes]
rs73536936	0.81[EUR][1000 genomes]
rs73536939	0.81[EUR][1000 genomes]
rs73544253	0.81[EUR][1000 genomes]
rs73544267	0.81[EUR][1000 genomes]
rs73544271	0.81[EUR][1000 genomes]
rs73544281	0.81[EUR][1000 genomes]
rs73544284	0.81[EUR][1000 genomes]
rs73546131	0.81[EUR][1000 genomes]
rs73546132	0.81[EUR][1000 genomes]
rs73546138	0.81[EUR][1000 genomes]
rs73546141	0.81[EUR][1000 genomes]
rs73546143	0.81[EUR][1000 genomes]
rs73551214	0.81[EUR][1000 genomes]
rs73551221	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73551228	0.81[EUR][1000 genomes]
rs73551230	0.81[EUR][1000 genomes]
rs73551233	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73551238	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73552163	0.81[EUR][1000 genomes]
rs73552167	0.81[EUR][1000 genomes]
rs7500284	0.83[AMR][1000 genomes]
rs8044496	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8046175	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8046259	0.81[EUR][1000 genomes]
rs8047342	0.81[EUR][1000 genomes]
rs8048233	0.81[EUR][1000 genomes]
rs8048279	0.81[EUR][1000 genomes]
rs8049111	0.81[EUR][1000 genomes]
rs8052294	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8053042	0.81[EUR][1000 genomes]
rs8054017	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8054582	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8055624	0.81[EUR][1000 genomes]
rs8055695	0.81[EUR][1000 genomes]
rs8061062	0.81[EUR][1000 genomes]
rs8061556	0.81[EUR][1000 genomes]
rs8061656	0.81[EUR][1000 genomes]
rs8062269	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8064193	0.83[AMR][1000 genomes]
rs876258	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9328600	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9746012	0.81[EUR][1000 genomes]
rs9746020	0.81[EUR][1000 genomes]
rs9921542	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9922381	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9923591	0.81[EUR][1000 genomes]
rs9926490	0.83[AMR][1000 genomes]
rs9926971	0.81[EUR][1000 genomes]
rs9927096	0.83[AMR][1000 genomes]
rs9927438	0.83[AMR][1000 genomes]
rs9927829	0.81[EUR][1000 genomes]
rs9929392	0.81[EUR][1000 genomes]
rs9929794	0.81[EUR][1000 genomes]
rs9930026	0.81[EUR][1000 genomes]
rs9931638	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9932128	0.81[EUR][1000 genomes]
rs9933052	0.83[AMR][1000 genomes]
rs9934384	0.83[AMR][1000 genomes]
rs9934668	0.83[AMR][1000 genomes]
rs9935427	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9935542	0.81[EUR][1000 genomes]
rs9936361	0.83[AMR][1000 genomes]
rs9936580	0.81[EUR][1000 genomes]
rs9938516	0.83[AMR][1000 genomes]
rs9940610	0.81[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	esv1795199	chr16:47111119-47732476	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520355	chr16:47424828-48164777	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv525976	chr16:47583872-48035026	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1056126	chr16:47658705-47738655	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47609600-47694400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr16:47626600-47724600	Weak transcription	Small Intestine	intestine
3	chr16:47627000-47685000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr16:47635200-47684200	Weak transcription	Ovary	ovary
5	chr16:47647600-47684200	Weak transcription	Fetal Muscle Leg	muscle
6	chr16:47661200-47709200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr16:47661400-47694600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr16:47661400-47697800	Weak transcription	Stomach Mucosa	stomach
9	chr16:47662800-47682400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr16:47666200-47729800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr16:47666400-47683000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr16:47666400-47684200	Weak transcription	Colonic Mucosa	Colon
13	chr16:47668800-47687200	Weak transcription	A549	lung
14	chr16:47668800-47691800	Weak transcription	Thymus	Thymus
15	chr16:47669000-47683000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr16:47669200-47683000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr16:47670600-47691800	Weak transcription	Pancreas	Pancrea
18	chr16:47671000-47686600	Weak transcription	Gastric	stomach
19	chr16:47671000-47710800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr16:47671200-47682400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr16:47671400-47682200	Weak transcription	Fetal Intestine Large	intestine
22	chr16:47671400-47682400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr16:47671400-47683000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr16:47671400-47685200	Weak transcription	Lung	lung
25	chr16:47671400-47691800	Weak transcription	Spleen	Spleen
26	chr16:47671400-47695000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr16:47671400-47698800	Weak transcription	Fetal Intestine Small	intestine
28	chr16:47671600-47687200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr16:47673800-47686400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr16:47677000-47684200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr16:47677000-47684200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr16:47677200-47681800	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr16:47677200-47682400	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr16:47677200-47683000	Weak transcription	Placenta	Placenta
35	chr16:47677200-47683200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr16:47677400-47687000	Weak transcription	Fetal Thymus	thymus
37	chr16:47677400-47694800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr16:47677800-47681800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr16:47677800-47683600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr16:47678000-47682200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr16:47678000-47682400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr16:47678000-47682400	Weak transcription	Dnd41	blood
43	chr16:47678000-47683200	Weak transcription	Primary T cells from cord blood	blood
44	chr16:47678000-47685000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr16:47678000-47691800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr16:47678000-47694600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr16:47678000-47694600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr16:47678000-47694800	Weak transcription	Brain Angular Gyrus	brain
49	chr16:47678200-47682200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr16:47678200-47682200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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