Variant report

Variant	rs7200034
Chromosome Location	chr16:70383112-70383113
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr16:70383104-70383497	K562	blood:	n/a	n/a
2	POLR2A	chr16:70382943-70383132	HepG2	liver:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70383005..70385826-chr16:70388585..70390141,2	MCF-7	breast:
2	chr16:70379447..70384942-chr16:70556059..70561583,7	K562	blood:
3	chr16:70365097..70367956-chr16:70382920..70385112,3	K562	blood:
4	chr16:70383049..70384723-chr16:70430171..70432372,2	K562	blood:
5	chr16:70379526..70383319-chr16:70470652..70474068,4	K562	blood:
6	chr16:70375788..70377818-chr16:70381402..70383532,2	K562	blood:
7	chr16:70380932..70385143-chr16:70404657..70409914,6	MCF-7	breast:
8	chr16:70381202..70383601-chr16:70463470..70465382,2	K562	blood:
9	chr16:70382796..70385300-chr16:70408811..70411389,2	K562	blood:
10	chr16:70381919..70383634-chr16:70512388..70514213,2	K562	blood:
11	chr16:70380684..70382606-chr16:70382776..70384424,3	MCF-7	breast:
12	chr16:70382995..70385484-chr16:70556876..70560677,3	MCF-7	breast:
13	chr16:70378223..70384231-chr16:70413255..70416872,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261777	TF binding region
ENSG00000103051	Chromatin interaction
ENSG00000260111	Chromatin interaction
ENSG00000157350	Chromatin interaction
ENSG00000189091	Chromatin interaction
ENSG00000168872	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs13334712	1.00[EUR][1000 genomes]
rs13337437	1.00[EUR][1000 genomes]
rs16970240	1.00[MEX][hapmap]
rs16970253	1.00[MEX][hapmap]
rs16970260	1.00[MEX][hapmap]
rs17881316	1.00[MEX][hapmap]
rs1979594	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3852695	0.80[YRI][hapmap]
rs57301833	1.00[EUR][1000 genomes]
rs60828997	1.00[EUR][1000 genomes]
rs7193228	1.00[MEX][hapmap]
rs7193598	0.93[ASW][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];1.00[EUR][1000 genomes]
rs7200891	1.00[EUR][1000 genomes]
rs8057327	1.00[MEX][hapmap]
rs8057732	1.00[MEX][hapmap]
rs8058754	1.00[MEX][hapmap]
rs891138	0.92[YRI][hapmap];0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9921696	0.93[ASW][hapmap];1.00[MEX][hapmap]
rs9924352	0.86[ASW][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9925510	0.93[ASW][hapmap];1.00[MEX][hapmap]
rs9927480	1.00[EUR][1000 genomes]
rs9928617	1.00[MEX][hapmap]
rs9929354	1.00[MEX][hapmap]
rs9931779	1.00[EUR][1000 genomes]
rs9934707	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9940353	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482577	chr16:70329048-70516069	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
2	esv3390669	chr16:70363244-70400179	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv833272	chr16:70369769-70569723	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70381200-70386200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr16:70381200-70388800	Weak transcription	Spleen	Spleen
3	chr16:70381200-70389200	Weak transcription	Gastric	stomach
4	chr16:70381400-70386600	Weak transcription	Esophagus	oesophagus
5	chr16:70381400-70389000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr16:70381400-70394400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:70381600-70383200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr16:70381600-70383200	Enhancers	Adipose Nuclei	Adipose
9	chr16:70381600-70383200	Weak transcription	Right Atrium	heart
10	chr16:70381600-70383600	Enhancers	Fetal Heart	heart
11	chr16:70381600-70383800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr16:70381600-70384000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr16:70381600-70384400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr16:70381600-70388600	Weak transcription	Aorta	Aorta
15	chr16:70381600-70388600	Weak transcription	Brain Substantia Nigra	brain
16	chr16:70381600-70389000	Weak transcription	Ovary	ovary
17	chr16:70381600-70389200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr16:70381600-70392600	Weak transcription	Fetal Kidney	kidney
19	chr16:70381600-70413200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr16:70381600-70414000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr16:70381800-70383400	Enhancers	Pancreas	Pancrea
22	chr16:70381800-70383600	Genic enhancers	Fetal Muscle Trunk	muscle
23	chr16:70381800-70383600	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr16:70381800-70389000	Weak transcription	HSMMtube	muscle
25	chr16:70382000-70383200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr16:70382000-70383200	Weak transcription	Brain Hippocampus Middle	brain
27	chr16:70382000-70383400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr16:70382000-70384200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr16:70382000-70387800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr16:70382000-70388600	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr16:70382000-70388800	Weak transcription	Colonic Mucosa	Colon
32	chr16:70382200-70383200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr16:70382200-70383200	Weak transcription	Primary B cells from cord blood	blood
34	chr16:70382200-70383200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr16:70382200-70383200	Weak transcription	Brain Angular Gyrus	brain
36	chr16:70382200-70383200	Weak transcription	Brain Anterior Caudate	brain
37	chr16:70382200-70383200	Enhancers	Psoas Muscle	Psoas
38	chr16:70382200-70383400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr16:70382200-70383400	Weak transcription	Primary B cells from peripheral blood	blood
40	chr16:70382200-70383400	Enhancers	Muscle Satellite Cultured Cells	--
41	chr16:70382200-70383400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr16:70382200-70383400	Weak transcription	Fetal Brain Female	brain
43	chr16:70382200-70383400	Enhancers	HepG2	liver
44	chr16:70382200-70383400	Enhancers	Osteobl	bone
45	chr16:70382200-70383600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr16:70382200-70383600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr16:70382200-70383600	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr16:70382200-70384200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr16:70382200-70385000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr16:70382200-70385200	Weak transcription	Stomach Smooth Muscle	stomach

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