Variant report

Variant	rs35282277
Chromosome Location	chr16:81029577-81029578
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81026654..81030284-chr16:81073967..81077178,3	K562	blood:
2	chr16:81005749..81007620-chr16:81026993..81029850,2	K562	blood:
3	chr16:81028135..81034571-chr16:81035246..81044200,13	K562	blood:
4	chr16:81023188..81026086-chr16:81027867..81032620,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000103121	Chromatin interaction
ENSG00000166451	Chromatin interaction
ENSG00000166454	Chromatin interaction

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs12918103	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12919463	1.00[EUR][1000 genomes]
rs12919980	1.00[EUR][1000 genomes]
rs12920066	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12920959	1.00[AMR][1000 genomes]
rs12921900	1.00[EUR][1000 genomes]
rs12921990	1.00[EUR][1000 genomes]
rs12922449	1.00[EUR][1000 genomes]
rs12924576	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12924715	1.00[EUR][1000 genomes]
rs12924719	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12928381	1.00[EUR][1000 genomes]
rs12928648	1.00[EUR][1000 genomes]
rs12928790	1.00[EUR][1000 genomes]
rs12929250	1.00[EUR][1000 genomes]
rs12930046	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12930202	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12931555	1.00[EUR][1000 genomes]
rs12931678	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12931766	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12931852	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12932119	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12932272	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12932466	1.00[EUR][1000 genomes]
rs12933920	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13329702	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13333603	1.00[EUR][1000 genomes]
rs13336113	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2241408	1.00[EUR][1000 genomes]
rs2278021	1.00[EUR][1000 genomes]
rs2303214	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2549893	1.00[EUR][1000 genomes]
rs28838915	0.88[ASN][1000 genomes]
rs34075739	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34082687	1.00[EUR][1000 genomes]
rs34105513	1.00[EUR][1000 genomes]
rs34262209	1.00[EUR][1000 genomes]
rs34270219	1.00[EUR][1000 genomes]
rs34277507	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34529307	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34545373	1.00[EUR][1000 genomes]
rs34586837	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34638844	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34699659	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34966856	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34984547	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs34992819	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35011155	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35035454	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35110550	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35117857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35161190	1.00[EUR][1000 genomes]
rs35292442	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35552248	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35555542	1.00[AMR][1000 genomes]
rs35674322	1.00[EUR][1000 genomes]
rs35887664	1.00[EUR][1000 genomes]
rs35890164	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35899445	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36040615	1.00[EUR][1000 genomes]
rs36052656	1.00[EUR][1000 genomes]
rs36056886	1.00[EUR][1000 genomes]
rs36099793	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3759931	1.00[EUR][1000 genomes]
rs57203494	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71400131	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71400132	0.87[AFR][1000 genomes]
rs71400134	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71400135	1.00[EUR][1000 genomes]
rs71400136	1.00[EUR][1000 genomes]
rs71400137	1.00[EUR][1000 genomes]
rs71400138	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71400140	1.00[EUR][1000 genomes]
rs71400141	1.00[EUR][1000 genomes]
rs71400142	1.00[EUR][1000 genomes]
rs7200400	0.89[EUR][1000 genomes]
rs7202356	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73582605	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs754428	0.89[EUR][1000 genomes]
rs804893	1.00[EUR][1000 genomes]
rs8049484	0.82[ASN][1000 genomes]
rs8049650	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8062810	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8177862	1.00[EUR][1000 genomes]
rs8177863	1.00[EUR][1000 genomes]
rs8177878	1.00[EUR][1000 genomes]
rs8177891	1.00[EUR][1000 genomes]
rs8177919	1.00[EUR][1000 genomes]
rs8177938	1.00[EUR][1000 genomes]
rs874051	0.91[ASN][1000 genomes]
rs9922227	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9930427	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948534	chr16:80867635-81160492	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1065258	chr16:80887483-81081768	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv1058045	chr16:80918138-81048242	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv1064164	chr16:80918138-81126967	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv542991	chr16:80918138-81126967	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
7	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
8	nsv573338	chr16:81020393-81106944	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats 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	35 gene(s)	inside rSNPs	diseases
9	nsv427984	chr16:81026691-81320341	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription 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	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80998400-81030800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr16:81001400-81038000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr16:81005200-81030600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr16:81006600-81029800	Weak transcription	Fetal Kidney	kidney
5	chr16:81007200-81030800	Weak transcription	Psoas Muscle	Psoas
6	chr16:81009200-81038800	Weak transcription	Spleen	Spleen
7	chr16:81010000-81030800	Weak transcription	Ovary	ovary
8	chr16:81014000-81030600	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr16:81014000-81039200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr16:81014400-81030400	Weak transcription	Colon Smooth Muscle	Colon
11	chr16:81014400-81030800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr16:81014400-81037600	Weak transcription	Left Ventricle	heart
13	chr16:81014600-81034000	Weak transcription	Fetal Stomach	stomach
14	chr16:81014600-81037600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr16:81014600-81037600	Weak transcription	Lung	lung
16	chr16:81015200-81030400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr16:81015200-81030400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr16:81015600-81030000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr16:81020800-81030800	Weak transcription	Right Ventricle	heart
20	chr16:81021400-81030800	Weak transcription	Right Atrium	heart
21	chr16:81022000-81030400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr16:81022000-81038000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr16:81022000-81038200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr16:81022000-81039200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr16:81022200-81038400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr16:81022600-81038000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr16:81022600-81038200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr16:81024400-81038800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr16:81025200-81037600	Weak transcription	Gastric	stomach
30	chr16:81025200-81038000	Weak transcription	Pancreas	Pancrea
31	chr16:81025400-81030400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr16:81025400-81030600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr16:81025400-81037600	Weak transcription	Fetal Muscle Leg	muscle
34	chr16:81025600-81030400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr16:81025600-81030400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr16:81025600-81030400	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr16:81025600-81030600	Weak transcription	Primary B cells from peripheral blood	blood
38	chr16:81025600-81030600	Weak transcription	Adipose Nuclei	Adipose
39	chr16:81025600-81030600	Weak transcription	Thymus	Thymus
40	chr16:81025600-81033200	Weak transcription	Dnd41	blood
41	chr16:81025600-81036400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr16:81025600-81037600	Weak transcription	Fetal Thymus	thymus
43	chr16:81026000-81029800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr16:81026000-81030400	Weak transcription	Primary B cells from cord blood	blood
45	chr16:81026000-81030600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr16:81026800-81030400	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr16:81027200-81030200	Enhancers	Liver	Liver
48	chr16:81027200-81037200	Weak transcription	Brain Angular Gyrus	brain
49	chr16:81027200-81038000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr16:81027200-81039200	Weak transcription	Aorta	Aorta

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