Variant report

Variant	rs2164246
Chromosome Location	chr16:75602369-75602370
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75601777..75604413-chr16:75611390..75613643,2	K562	blood:
2	chr16:75602228..75603948-chr16:75626935..75628587,2	K562	blood:
3	chr16:75587491..75591972-chr16:75596703..75602966,17	MCF-7	breast:
4	chr16:75600704..75602997-chr16:75682775..75685144,2	K562	blood:
5	chr16:75601864..75604416-chr16:75653579..75655170,2	MCF-7	breast:
6	chr16:75602005..75604568-chr16:75676521..75678047,2	MCF-7	breast:
7	chr16:75588622..75597419-chr16:75598326..75606239,14	K562	blood:

Variant related genes	Relation type
ENSG00000205084	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11556641	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16940260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940961	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16941287	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16941301	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16941409	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16941516	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16942032	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2550320	1.00[AMR][1000 genomes]
rs2550889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2550897	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2550900	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2550902	0.86[EUR][1000 genomes]
rs2550903	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2550905	0.80[EUR][1000 genomes]
rs2550906	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2550907	0.86[EUR][1000 genomes]
rs2550914	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2550915	1.00[EUR][1000 genomes]
rs2641803	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2641807	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2650406	0.86[EUR][1000 genomes]
rs2650410	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2650411	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2738800	1.00[AMR][1000 genomes]
rs55714466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55862257	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56030666	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56321575	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60919196	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7194333	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72563121	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73610805	0.86[EUR][1000 genomes]
rs74024796	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74027409	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs74027420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74027421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74027424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74027425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74027427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74027428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74027431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74027432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74027433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74027436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74027439	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74027441	1.00[EUR][1000 genomes]
rs74027443	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8192515	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs920037	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv1065995	chr16:75373756-75626027	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv1063718	chr16:75395969-75608071	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
5	nsv525955	chr16:75473332-75628345	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
6	nsv457521	chr16:75487758-75603925	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
7	nsv572979	chr16:75487758-75603925	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
8	nsv532561	chr16:75519574-75636977	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active 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	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75601200-75602600	Enhancers	Stomach Mucosa	stomach
2	chr16:75601200-75604000	Weak transcription	Small Intestine	intestine
3	chr16:75601200-75604400	Enhancers	Fetal Heart	heart
4	chr16:75601200-75606000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr16:75601200-75606200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr16:75601200-75608600	Genic enhancers	Primary B cells from peripheral blood	blood
7	chr16:75601200-75624400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr16:75601400-75602400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr16:75601400-75602600	Genic enhancers	Fetal Muscle Leg	muscle
10	chr16:75601400-75603000	Genic enhancers	Primary T cells from cord blood	blood
11	chr16:75601400-75603200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
12	chr16:75601400-75604400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr16:75601400-75605400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
14	chr16:75601400-75605800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
15	chr16:75601400-75607200	Genic enhancers	Primary T cells fromperipheralblood	blood
16	chr16:75601400-75610200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr16:75601600-75602400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr16:75601600-75602600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr16:75601600-75602600	Weak transcription	Psoas Muscle	Psoas
20	chr16:75601600-75602800	Genic enhancers	Fetal Kidney	kidney
21	chr16:75601600-75603400	Genic enhancers	Brain Germinal Matrix	brain
22	chr16:75601600-75603600	Genic enhancers	K562	blood
23	chr16:75601600-75603800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr16:75601600-75603800	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr16:75601600-75604200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr16:75601600-75604200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr16:75601600-75604200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr16:75601600-75604200	Enhancers	Right Atrium	heart
29	chr16:75601600-75604600	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr16:75601600-75605000	Strong transcription	Fetal Thymus	thymus
31	chr16:75601600-75605200	Genic enhancers	Stomach Smooth Muscle	stomach
32	chr16:75601600-75605400	Genic enhancers	Colon Smooth Muscle	Colon
33	chr16:75601600-75605600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
34	chr16:75601600-75608800	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr16:75601600-75609600	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr16:75601600-75613400	Strong transcription	NH-A	brain
37	chr16:75601600-75613800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr16:75601600-75613800	Strong transcription	A549	lung
39	chr16:75601600-75614400	Genic enhancers	Brain Anterior Caudate	brain
40	chr16:75601600-75615200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr16:75601600-75615400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr16:75601800-75602400	Weak transcription	Esophagus	oesophagus
43	chr16:75601800-75602600	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr16:75601800-75602600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr16:75601800-75602800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr16:75601800-75602800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr16:75601800-75602800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr16:75601800-75602800	Genic enhancers	Aorta	Aorta
49	chr16:75601800-75603200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr16:75601800-75603200	Genic enhancers	Cortex derived primary cultured neurospheres	brain

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