Variant report

Variant	rs9938021
Chromosome Location	chr16:80648048-80648049
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:80647872..80651396-chr16:80835891..80840047,9	MCF-7	breast:
2	chr16:80621732..80623861-chr16:80646152..80649105,2	MCF-7	breast:
3	chr16:80646588..80649527-chr16:80660737..80663872,3	MCF-7	breast:
4	chr12:22671878..22674832-chr16:80646701..80648364,2	MCF-7	breast:
5	chr16:80647444..80649245-chr16:80655648..80657363,2	MCF-7	breast:
6	chr16:80646269..80652349-chr16:80833656..80841772,15	MCF-7	breast:
7	chr16:80573284..80576270-chr16:80646874..80649939,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259867	Chromatin interaction
ENSG00000260064	Chromatin interaction
ENSG00000168589	Chromatin interaction
ENSG00000166446	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10468364	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11150296	0.93[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11862190	0.81[CEU][hapmap]
rs11866077	0.92[CEU][hapmap]
rs12446424	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13329835	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs1629	1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs17750740	1.00[CEU][hapmap]
rs2060861	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2167671	0.83[CEU][hapmap];0.95[EUR][1000 genomes]
rs2316184	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28456059	0.94[ASN][1000 genomes]
rs28650484	0.93[ASN][1000 genomes]
rs4315348	0.83[YRI][hapmap]
rs4613079	0.83[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs4889165	1.00[JPT][hapmap]
rs57703295	0.86[AFR][1000 genomes]
rs6420415	0.86[CEU][hapmap]
rs6564770	0.92[CEU][hapmap]
rs6564771	0.85[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7187794	0.85[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs735753	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7404848	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7499149	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7500067	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8056731	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs873994	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs873995	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs879843	0.96[EUR][1000 genomes]
rs896625	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9933302	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9940301	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9940376	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060621	chr16:80532848-80980616	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv542989	chr16:80532848-80980616	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv1056083	chr16:80636184-80666779	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1063971	chr16:80640278-80663092	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1063761	chr16:80640278-80663665	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1055196	chr16:80647550-80672417	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80630600-80668000	Weak transcription	Fetal Kidney	kidney
2	chr16:80634200-80663600	Weak transcription	Brain Anterior Caudate	brain
3	chr16:80635000-80651200	Weak transcription	Brain Hippocampus Middle	brain
4	chr16:80635400-80655600	Weak transcription	Brain Angular Gyrus	brain
5	chr16:80636000-80648200	Strong transcription	Hela-S3	cervix
6	chr16:80636800-80653600	Weak transcription	HSMMtube	muscle
7	chr16:80637000-80653400	Weak transcription	HSMM	muscle
8	chr16:80637200-80648200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr16:80637400-80648600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr16:80639800-80657400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr16:80640600-80652600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr16:80640600-80662200	Weak transcription	Primary T cells from cord blood	blood
13	chr16:80640600-80662600	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr16:80640800-80663800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr16:80640800-80669200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr16:80641800-80652200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr16:80642000-80648200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr16:80642200-80652200	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr16:80642200-80668200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr16:80642800-80663800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr16:80643000-80649600	Weak transcription	Fetal Stomach	stomach
22	chr16:80643000-80654600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr16:80643200-80648200	Weak transcription	HUVEC	blood vessel
24	chr16:80644200-80666200	Weak transcription	Brain Substantia Nigra	brain
25	chr16:80645200-80652800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr16:80645400-80657600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr16:80645600-80652800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr16:80646000-80653600	Weak transcription	Fetal Intestine Large	intestine
29	chr16:80646000-80656000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr16:80646200-80648200	Strong transcription	Primary hematopoietic stem cells	blood
31	chr16:80646200-80651000	Enhancers	Placenta	Placenta
32	chr16:80646400-80657800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr16:80646400-80662200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr16:80646400-80662200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr16:80646600-80648800	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr16:80646600-80649000	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr16:80646600-80650800	Weak transcription	Liver	Liver
38	chr16:80646600-80651400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr16:80646600-80652000	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr16:80646600-80652600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr16:80646600-80653200	Weak transcription	Lung	lung
42	chr16:80646600-80654800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr16:80646600-80657800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr16:80646600-80687800	Weak transcription	Pancreas	Pancrea
45	chr16:80646800-80649400	Weak transcription	Aorta	Aorta
46	chr16:80646800-80649400	Weak transcription	Spleen	Spleen
47	chr16:80646800-80653000	Weak transcription	Adipose Nuclei	Adipose
48	chr16:80647000-80648200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr16:80647000-80648600	Weak transcription	Right Ventricle	heart
50	chr16:80647000-80649000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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