Variant report

Variant	rs35974081
Chromosome Location	chr16:30594744-30594745
allele	A/G
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:14)
LncRNA
region (count:1)
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	POLR2A	chr16:30594674-30595097	K562	blood:	n/a	n/a
2	POLR2A	chr16:30593607-30594776	K562	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30578114..30586052-chr16:30592731..30598818,24	MCF-7	breast:
2	chr16:30594515..30599835-chr16:30618080..30622576,11	MCF-7	breast:
3	chr16:30593850..30596066-chr16:30597783..30599898,3	MCF-7	breast:
4	chr16:30580685..30586607-chr16:30594028..30599624,16	MCF-7	breast:
5	chr16:30568530..30574160-chr16:30594464..30599047,9	MCF-7	breast:
6	chr16:30545950..30548016-chr16:30593866..30595434,2	MCF-7	breast:
7	chr16:30535779..30539932-chr16:30594459..30598426,6	MCF-7	breast:
8	chr16:30581461..30583107-chr16:30594667..30597602,3	K562	blood:
9	chr16:30536312..30540010-chr16:30593652..30599869,13	MCF-7	breast:
10	chr16:30583050..30589314-chr16:30592212..30597849,11	K562	blood:
11	chr1:149223042..149225501-chr16:30594348..30597007,2	MCF-7	breast:
12	chr16:30545917..30548270-chr16:30592742..30594990,2	K562	blood:
13	chr16:30455211..30457607-chr16:30594588..30597535,5	MCF-7	breast:
14	chr16:30463892..30466814-chr16:30594594..30597000,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ITGAL-3	chr16:30593851-30595181	ENSG00000239791.1

No data

Variant related genes	Relation type
ZNF785	TF binding region
ENSG00000260167	TF binding region
ENSG00000169951	Chromatin interaction
ENSG00000261459	Chromatin interaction
ENSG00000169957	Chromatin interaction
ENSG00000179918	Chromatin interaction
ENSG00000235560	Chromatin interaction
ENSG00000229809	Chromatin interaction
ENSG00000156853	Chromatin interaction
ENSG00000202476	Chromatin interaction
ENSG00000169955	Chromatin interaction
ENSG00000206737	Chromatin interaction
ENSG00000260869	Chromatin interaction
ENSG00000239791	Chromatin interaction
ENSG00000261588	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11538958	1.00[LWK][hapmap]
rs11556801	1.00[LWK][hapmap]
rs35215913	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9925349	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv905727	chr16:30564526-30689696	Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
4	nsv542899	chr16:30575260-30612385	Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30584000-30596000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr16:30584000-30596000	Weak transcription	Fetal Kidney	kidney
3	chr16:30584000-30596000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr16:30584000-30596000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr16:30584000-30596000	Weak transcription	NHDF-Ad	bronchial
6	chr16:30584000-30596200	Weak transcription	Right Atrium	heart
7	chr16:30584200-30596000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr16:30584200-30596000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr16:30584200-30596000	Weak transcription	NH-A	brain
10	chr16:30584400-30596000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr16:30584400-30596200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr16:30584800-30596200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr16:30587200-30595800	Strong transcription	Fetal Intestine Small	intestine
14	chr16:30587800-30595600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr16:30587800-30595600	Strong transcription	Fetal Stomach	stomach
16	chr16:30588000-30595600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr16:30588400-30595400	Strong transcription	Fetal Muscle Trunk	muscle
18	chr16:30588400-30595400	Strong transcription	Fetal Thymus	thymus
19	chr16:30588600-30601600	Weak transcription	HepG2	liver
20	chr16:30589200-30594800	Strong transcription	Ovary	ovary
21	chr16:30589200-30595200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr16:30590200-30595400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr16:30590200-30595600	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr16:30591200-30596000	Weak transcription	HSMMtube	muscle
25	chr16:30591800-30595600	Strong transcription	Brain Anterior Caudate	brain
26	chr16:30592000-30595000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr16:30592000-30596000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr16:30592200-30595400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr16:30592200-30595600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr16:30592400-30595200	Strong transcription	H9 Cell Line	embryonic stem cell
31	chr16:30592400-30595200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr16:30592400-30595400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr16:30592400-30595400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr16:30592600-30594800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
35	chr16:30592600-30595000	Strong transcription	Lung	lung
36	chr16:30592600-30595200	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr16:30592600-30595400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr16:30592600-30595600	Strong transcription	Adipose Nuclei	Adipose
39	chr16:30592800-30594800	Strong transcription	Colonic Mucosa	Colon
40	chr16:30592800-30595000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr16:30592800-30595000	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr16:30592800-30595000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr16:30592800-30595000	Strong transcription	Liver	Liver
44	chr16:30592800-30595000	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr16:30592800-30595200	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr16:30592800-30595200	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr16:30592800-30595200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr16:30592800-30595200	Strong transcription	Brain Cingulate Gyrus	brain
49	chr16:30592800-30595400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr16:30592800-30595400	Strong transcription	Cortex derived primary cultured neurospheres	brain

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