Variant report

Variant	rs7193361
Chromosome Location	chr16:81010343-81010344
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81007937..81010698-chr16:81068486..81070530,2	MCF-7	breast:
2	chr16:81005392..81007770-chr16:81008815..81010427,2	K562	blood:
3	chr16:81009884..81011946-chr16:81022091..81024291,2	K562	blood:
4	chr16:81009604..81011384-chr16:81022091..81025073,2	K562	blood:

Variant related genes	Relation type
ENSG00000166454	Chromatin interaction
ENSG00000260213	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1463286	1.00[AMR][1000 genomes]
rs2084960	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2084961	1.00[AMR][1000 genomes]
rs2084962	1.00[AMR][1000 genomes]
rs2317088	1.00[AMR][1000 genomes]
rs2549851	1.00[AMR][1000 genomes]
rs2602422	1.00[AMR][1000 genomes]
rs2602445	1.00[AMR][1000 genomes]
rs2911153	1.00[AMR][1000 genomes]
rs2911154	1.00[AMR][1000 genomes]
rs4888119	1.00[AMR][1000 genomes]
rs55735411	1.00[AMR][1000 genomes]
rs6564817	1.00[AMR][1000 genomes]
rs74028849	1.00[AMR][1000 genomes]
rs804884	1.00[AMR][1000 genomes]
rs804891	1.00[AMR][1000 genomes]
rs8050760	1.00[AMR][1000 genomes]
rs935939	1.00[AMR][1000 genomes]
rs935940	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	esv2756816	chr16:80972279-81027142	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv2758663	chr16:80972279-81027142	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	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
9	nsv817744	chr16:80989859-81027685	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv11135	chr16:80997245-81028812	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv573337	chr16:80997892-81027685	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1061745	chr16:80998523-81029147	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	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
14	esv2753780	chr16:81010299-81028799	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80994600-81026400	Weak transcription	HSMMtube	muscle
2	chr16:80994800-81023400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr16:80996600-81018600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr16:80998200-81013800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr16:80998400-81030800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr16:80998600-81014800	Weak transcription	Brain Angular Gyrus	brain
7	chr16:81001000-81020400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr16:81001200-81013600	Weak transcription	Brain Hippocampus Middle	brain
9	chr16:81001400-81013800	Weak transcription	Brain Anterior Caudate	brain
10	chr16:81001400-81026400	Weak transcription	NHLF	lung
11	chr16:81001400-81038000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr16:81002000-81013800	Weak transcription	Brain Germinal Matrix	brain
13	chr16:81002400-81013200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr16:81002600-81012200	Weak transcription	Adipose Nuclei	Adipose
15	chr16:81002600-81013000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr16:81002600-81013000	Weak transcription	Fetal Intestine Large	intestine
17	chr16:81002600-81019400	Weak transcription	HMEC	breast
18	chr16:81002800-81017800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr16:81003200-81012200	Weak transcription	HUVEC	blood vessel
20	chr16:81003400-81011600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr16:81003600-81011000	Weak transcription	A549	lung
22	chr16:81003600-81026800	Weak transcription	Brain Substantia Nigra	brain
23	chr16:81003800-81011400	Strong transcription	Hela-S3	cervix
24	chr16:81004200-81025000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr16:81004400-81013600	Weak transcription	Right Ventricle	heart
26	chr16:81004600-81020400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr16:81005200-81030600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr16:81005400-81013200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr16:81005600-81013800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr16:81005800-81010600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr16:81005800-81011200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr16:81005800-81011200	Strong transcription	Dnd41	blood
33	chr16:81005800-81015400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr16:81006000-81014000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr16:81006000-81015800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr16:81006200-81019200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr16:81006400-81015000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr16:81006600-81021400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr16:81006600-81029800	Weak transcription	Fetal Kidney	kidney
40	chr16:81007000-81015800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr16:81007200-81013200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr16:81007200-81013600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr16:81007200-81030800	Weak transcription	Psoas Muscle	Psoas
44	chr16:81007400-81014200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr16:81007600-81010800	Strong transcription	Primary B cells from cord blood	blood
46	chr16:81007600-81011600	Strong transcription	GM12878-XiMat	blood
47	chr16:81007600-81013600	Weak transcription	Colon Smooth Muscle	Colon
48	chr16:81007600-81027000	Weak transcription	Fetal Brain Female	brain
49	chr16:81007800-81014400	Strong transcription	HepG2	liver
50	chr16:81007800-81026600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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