Variant report

Variant	rs7203772
Chromosome Location	chr16:70380191-70380192
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:70379855-70381450	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr16:70379633-70380295	GM12891	blood:	n/a	n/a
3	MXI1	chr16:70379864-70381683	IMR90	lung:	n/a	n/a
4	POLR2A	chr16:70379404-70380250	GM12878	blood:	n/a	n/a
5	HEY1	chr16:70379963-70380225	HepG2	liver:	n/a	n/a
6	POLR2A	chr16:70379511-70380262	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr16:70379256-70381292	K562	blood:	n/a	n/a
8	TBP	chr16:70380017-70381246	K562	blood:	n/a	n/a
9	POLR2A	chr16:70379767-70381415	Hela-S3	cervix:	n/a	n/a
10	CHD2	chr16:70379878-70381219	K562	blood:	n/a	n/a
11	JUN	chr16:70379932-70381509	K562	blood:	n/a	chr16:70380758-70380771 chr16:70380762-70380771
12	POLR2A	chr16:70378654-70381718	HepG2	liver:	n/a	n/a
13	POLR2A	chr16:70379543-70381130	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr16:70379218-70380236	GM12892	blood:	n/a	n/a
15	POLR2A	chr16:70379543-70381494	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr16:70379698-70380194	HCT-116	colon:	n/a	n/a
17	POLR2A	chr16:70379665-70380288	GM12892	blood:	n/a	n/a
18	POLR2A	chr16:70380117-70381189	K562	blood:	n/a	n/a
19	POLR2A	chr16:70379859-70380246	SK-N-SH	brain:	n/a	n/a
20	TEAD4	chr16:70379772-70380200	HepG2	liver:	n/a	n/a
21	POLR2A	chr16:70379386-70381232	MCF-7	breast:	n/a	n/a
22	POLR2A	chr16:70379750-70380307	GM12892	blood:	n/a	n/a
23	HCFC1	chr16:70379832-70381428	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr16:70379578-70380237	SK-N-MC	brain:	n/a	n/a
25	POLR2A	chr16:70379801-70380195	HepG2	liver:	n/a	n/a
26	POLR2A	chr16:70379586-70380300	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr16:70380033-70380259	HCT-116	colon:	n/a	n/a
28	MXI1	chr16:70379899-70381613	SK-N-SH	brain:	n/a	n/a
29	POLR2A	chr16:70379629-70380247	PANC-1	pancreas:	n/a	n/a
30	POLR2A	chr16:70379710-70380193	HepG2	liver:	n/a	n/a
31	POLR2A	chr16:70379886-70381378	Raji	blood:	n/a	n/a
32	POLR2A	chr16:70378915-70380288	GM12878	blood:	n/a	n/a
33	POLR2A	chr16:70379975-70381631	IMR90	lung:	n/a	n/a
34	POLR2A	chr16:70379060-70381394	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70379903..70382135-chr16:70398083..70399782,2	MCF-7	breast:
2	chr16:70379447..70384942-chr16:70556059..70561583,7	K562	blood:
3	chr16:70321381..70324414-chr16:70379252..70382918,7	MCF-7	breast:
4	chr16:70379064..70380688-chr16:70557670..70559331,2	MCF-7	breast:
5	chr16:70380168..70380677-chr5:180632256..180632782,2	Hela-S3	cervix:
6	chr16:70379206..70382816-chr16:70556059..70558953,4	K562	blood:
7	chr16:70379526..70383319-chr16:70470652..70474068,4	K562	blood:
8	chr16:70379511..70381084-chr16:70487337..70489597,2	MCF-7	breast:
9	chr16:70379157..70381349-chr16:70561785..70563465,2	MCF-7	breast:
10	chr16:70318554..70325188-chr16:70378714..70382302,15	K562	blood:
11	chr16:70332853..70335232-chr16:70378695..70381623,2	K562	blood:
12	chr16:70321709..70323528-chr16:70379604..70382270,2	MCF-7	breast:
13	chr16:70378223..70384231-chr16:70413255..70416872,7	MCF-7	breast:
14	chr16:70320111..70324850-chr16:70378173..70382680,12	K562	blood:
15	chr14:69261001..69262599-chr16:70379139..70381962,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AARS-1	chr16:70380102-70380650	ENSG00000245206
2	lnc-AARS-1	chr16:70380102-70380650	ENSG00000261777.1
3	lnc-AARS-1	chr16:70380102-70380650	ENSG00000261777.1

No data

Variant related genes	Relation type
DDX19A	TF binding region
ENSG00000185650	Chromatin interaction
ENSG00000103051	Chromatin interaction
ENSG00000221514	Chromatin interaction
ENSG00000260537	Chromatin interaction
ENSG00000189091	Chromatin interaction
ENSG00000157353	Chromatin interaction
ENSG00000168872	Chromatin interaction
ENSG00000146054	Chromatin interaction
ENSG00000157350	Chromatin interaction
ENSG00000157349	Chromatin interaction
ENSG00000260111	Chromatin interaction
ENSG00000090861	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs11537667	0.82[YRI][hapmap]
rs11860870	1.00[MEX][hapmap];0.82[YRI][hapmap]
rs11861486	0.80[AFR][1000 genomes]
rs11862053	1.00[MEX][hapmap];0.82[YRI][hapmap]
rs11863943	1.00[MEX][hapmap]
rs11866378	0.82[YRI][hapmap]
rs16970121	0.93[ASW][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes]
rs16970133	0.93[ASW][hapmap];1.00[MEX][hapmap];0.87[YRI][hapmap]
rs16970141	1.00[MEX][hapmap];0.80[AMR][1000 genomes]
rs16970147	1.00[MEX][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes]
rs16970151	1.00[MEX][hapmap]
rs16970152	1.00[MEX][hapmap]
rs16970159	1.00[MEX][hapmap]
rs16970165	1.00[MEX][hapmap]
rs16970169	1.00[MEX][hapmap]
rs16970302	0.93[ASW][hapmap];1.00[MEX][hapmap];0.87[YRI][hapmap]
rs16970361	1.00[MEX][hapmap];0.82[YRI][hapmap]
rs16970609	0.82[YRI][hapmap]
rs17880268	1.00[MEX][hapmap]
rs17881219	1.00[MEX][hapmap]
rs17882471	1.00[MEX][hapmap]
rs17886064	0.90[AMR][1000 genomes]
rs56043981	0.90[AMR][1000 genomes]
rs56096542	0.90[AMR][1000 genomes]
rs56836664	0.82[AFR][1000 genomes]
rs57150196	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs57422630	0.90[AMR][1000 genomes]
rs58047061	0.82[AFR][1000 genomes]
rs58055772	0.90[AMR][1000 genomes]
rs58328210	0.90[AMR][1000 genomes]
rs59260159	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs59791510	0.90[AMR][1000 genomes]
rs59928915	0.80[AMR][1000 genomes]
rs60523557	0.90[AMR][1000 genomes]
rs61266247	0.80[AMR][1000 genomes]
rs6499312	0.87[YRI][hapmap];0.83[AFR][1000 genomes]
rs6499314	1.00[MEX][hapmap]
rs7184248	0.90[AMR][1000 genomes]
rs7188864	0.83[AFR][1000 genomes]
rs7189535	0.86[ASW][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap]
rs7190921	0.82[YRI][hapmap]
rs7192000	0.93[ASW][hapmap];1.00[MEX][hapmap];0.87[YRI][hapmap]
rs7195086	1.00[MEX][hapmap]
rs7195567	1.00[MEX][hapmap];0.82[YRI][hapmap]
rs7196392	1.00[MEX][hapmap]
rs7198871	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.91[YRI][hapmap]
rs7199145	1.00[MEX][hapmap]
rs7199346	1.00[MEX][hapmap]
rs7199655	0.83[AFR][1000 genomes]
rs7203761	0.93[ASW][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes]
rs7205871	0.90[AMR][1000 genomes]
rs7205918	1.00[MEX][hapmap];0.83[YRI][hapmap]
rs7205990	1.00[MEX][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes]
rs74024199	0.90[AMR][1000 genomes]
rs74024200	0.90[AMR][1000 genomes]
rs74026022	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs8045571	1.00[MEX][hapmap]
rs8046253	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs8046280	0.90[AMR][1000 genomes]
rs8046662	1.00[MEX][hapmap]
rs8046786	0.87[YRI][hapmap]
rs8049046	0.90[AMR][1000 genomes]
rs8049316	1.00[MEX][hapmap]
rs8050252	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs8051869	0.90[AMR][1000 genomes]
rs8053040	0.82[YRI][hapmap];0.90[AMR][1000 genomes]
rs8053657	0.80[AMR][1000 genomes]
rs8053883	1.00[MEX][hapmap]
rs8054203	0.83[AFR][1000 genomes]
rs8055338	1.00[MEX][hapmap]
rs8056811	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs8063749	0.82[YRI][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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70357200-70380200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:70368200-70380200	Weak transcription	Small Intestine	intestine
3	chr16:70369400-70380200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:70370600-70380600	Weak transcription	Spleen	Spleen
5	chr16:70371000-70380200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr16:70376400-70380200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr16:70379000-70380200	Enhancers	Lung	lung
8	chr16:70379200-70380200	Enhancers	Pancreas	Pancrea
9	chr16:70379400-70380200	Flanking Active TSS	Dnd41	blood
10	chr16:70379600-70380200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr16:70379600-70380200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr16:70379600-70380200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr16:70379600-70380200	Enhancers	Placenta Amnion	Placenta Amnion
14	chr16:70379600-70380200	Flanking Active TSS	HepG2	liver
15	chr16:70379600-70380200	Flanking Active TSS	K562	blood
16	chr16:70379600-70380400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr16:70379600-70380400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr16:70379600-70380400	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr16:70379600-70380400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr16:70379600-70380600	Enhancers	Fetal Heart	heart
21	chr16:70379600-70381600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr16:70379600-70382000	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr16:70379600-70382000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr16:70379600-70382000	Active TSS	A549	lung
25	chr16:70379600-70382200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr16:70379800-70380200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr16:70379800-70380200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr16:70379800-70380200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr16:70379800-70380200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr16:70379800-70380200	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr16:70379800-70380200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr16:70379800-70380200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr16:70379800-70380200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr16:70379800-70380200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr16:70379800-70380200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr16:70379800-70380200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr16:70379800-70380200	Flanking Active TSS	Liver	Liver
38	chr16:70379800-70380200	Flanking Active TSS	Brain Angular Gyrus	brain
39	chr16:70379800-70380200	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr16:70379800-70380200	Flanking Active TSS	Brain Cingulate Gyrus	brain
41	chr16:70379800-70380200	Flanking Active TSS	Brain Germinal Matrix	brain
42	chr16:70379800-70380200	Flanking Active TSS	Colon Smooth Muscle	Colon
43	chr16:70379800-70380200	Flanking Active TSS	Duodenum Mucosa	Duodenum
44	chr16:70379800-70380200	Flanking Active TSS	Fetal Intestine Large	intestine
45	chr16:70379800-70380200	Flanking Active TSS	Fetal Intestine Small	intestine
46	chr16:70379800-70380200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
47	chr16:70379800-70380200	Flanking Active TSS	Right Ventricle	heart
48	chr16:70379800-70380200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr16:70379800-70380200	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr16:70379800-70380200	Flanking Active TSS	Thymus	Thymus

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