Variant report

Variant	rs74028891
Chromosome Location	chr16:81030513-81030514
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr16:81030477-81030692	K562	blood:	n/a	n/a
2	TCF7L2	chr16:81029952-81030907	HEK293	kidney:	n/a	n/a
3	KAP1	chr16:81030315-81031269	U2OS	brain:	n/a	chr16:81030639-81030647
4	TBP	chr16:81030451-81031377	GM12878	blood:	n/a	n/a
5	SRF	chr16:81030216-81030631	ECC-1	luminal epithelium:	n/a	chr16:81030391-81030400 chr16:81030389-81030402 chr16:81030387-81030405 chr16:81030390-81030401 chr16:81030391-81030405 chr16:81030387-81030401 chr16:81030390-81030407 chr16:81030330-81030344 chr16:81030389-81030402 chr16:81030329-81030346
6	GATA3	chr16:81030500-81031188	SK-N-SH	brain:	n/a	n/a
7	TBL1XR1	chr16:81030493-81030716	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81028135..81034571-chr16:81035246..81044200,13	K562	blood:
2	chr16:81023188..81026086-chr16:81027867..81032620,4	MCF-7	breast:

Variant related genes	Relation type
CMC2	TF binding region
ENSG00000166451	Chromatin interaction
ENSG00000103121	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12103363	1.00[EUR][1000 genomes]
rs13329841	1.00[EUR][1000 genomes]
rs13337596	1.00[EUR][1000 genomes]
rs16954355	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16954388	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16954396	1.00[EUR][1000 genomes]
rs16954476	1.00[EUR][1000 genomes]
rs28838573	1.00[EUR][1000 genomes]
rs55664147	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56077763	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56117555	1.00[AMR][1000 genomes]
rs56231346	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56333013	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56378007	1.00[AMR][1000 genomes]
rs56758545	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56838270	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57808460	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57830624	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58231940	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58799815	0.91[AFR][1000 genomes]
rs59143415	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59569926	1.00[EUR][1000 genomes]
rs60277524	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60950004	1.00[EUR][1000 genomes]
rs61343635	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61495305	1.00[AMR][1000 genomes]
rs6564815	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6564816	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7187063	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73593377	1.00[EUR][1000 genomes]
rs74028885	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74028889	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74028894	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74028898	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74028901	1.00[AMR][1000 genomes]
rs74028902	1.00[AMR][1000 genomes]
rs74030503	1.00[AMR][1000 genomes]
rs74030505	1.00[AMR][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	chr16:81007200-81030800	Weak transcription	Psoas Muscle	Psoas
5	chr16:81009200-81038800	Weak transcription	Spleen	Spleen
6	chr16:81010000-81030800	Weak transcription	Ovary	ovary
7	chr16:81014000-81030600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr16:81014000-81039200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:81014400-81030800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr16:81014400-81037600	Weak transcription	Left Ventricle	heart
11	chr16:81014600-81034000	Weak transcription	Fetal Stomach	stomach
12	chr16:81014600-81037600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr16:81014600-81037600	Weak transcription	Lung	lung
14	chr16:81020800-81030800	Weak transcription	Right Ventricle	heart
15	chr16:81021400-81030800	Weak transcription	Right Atrium	heart
16	chr16:81022000-81038000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr16:81022000-81038200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr16:81022000-81039200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr16:81022200-81038400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr16:81022600-81038000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr16:81022600-81038200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr16:81024400-81038800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr16:81025200-81037600	Weak transcription	Gastric	stomach
24	chr16:81025200-81038000	Weak transcription	Pancreas	Pancrea
25	chr16:81025400-81030600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr16:81025400-81037600	Weak transcription	Fetal Muscle Leg	muscle
27	chr16:81025600-81030600	Weak transcription	Primary B cells from peripheral blood	blood
28	chr16:81025600-81030600	Weak transcription	Adipose Nuclei	Adipose
29	chr16:81025600-81030600	Weak transcription	Thymus	Thymus
30	chr16:81025600-81033200	Weak transcription	Dnd41	blood
31	chr16:81025600-81036400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr16:81025600-81037600	Weak transcription	Fetal Thymus	thymus
33	chr16:81026000-81030600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr16:81027200-81037200	Weak transcription	Brain Angular Gyrus	brain
35	chr16:81027200-81038000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr16:81027200-81039200	Weak transcription	Aorta	Aorta
37	chr16:81027400-81030600	Weak transcription	Fetal Lung	lung
38	chr16:81027400-81030800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr16:81027400-81031000	Weak transcription	Brain Germinal Matrix	brain
40	chr16:81027400-81037000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr16:81027400-81037200	Weak transcription	Fetal Brain Male	brain
42	chr16:81027600-81030600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr16:81027600-81038200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr16:81027800-81030600	Weak transcription	Brain Cingulate Gyrus	brain
45	chr16:81027800-81030600	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr16:81027800-81030800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr16:81027800-81030800	Weak transcription	Fetal Brain Female	brain
48	chr16:81027800-81030800	Weak transcription	Small Intestine	intestine
49	chr16:81027800-81034400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr16:81027800-81038000	Weak transcription	Brain Anterior Caudate	brain

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