Variant report

Variant	rs9936065
Chromosome Location	chr16:30409699-30409700
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:30409339-30410673	K562	blood:	n/a	n/a
2	POLR2A	chr16:30409690-30412303	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr16:30409617-30413472	HepG2	liver:	n/a	n/a
4	POLR2A	chr16:30409249-30409757	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr16:30409162-30409739	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr16:30408779-30412460	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:30409273..30413539-chr16:30663133..30666228,3	MCF-7	breast:
2	chr16:30365556..30368170-chr16:30409648..30412813,3	K562	blood:
3	chr16:30407328..30409721-chr16:30430312..30432675,2	MCF-7	breast:
4	chr16:30386182..30395144-chr16:30402818..30414477,44	MCF-7	breast:
5	chr16:30385968..30392864-chr16:30403786..30414800,30	MCF-7	breast:
6	chr16:30387676..30396507-chr16:30404234..30411930,28	K562	blood:
7	chr16:30409685..30411785-chr16:30564140..30566848,3	MCF-7	breast:
8	chr16:30407687..30410209-chr16:30656586..30658459,2	MCF-7	breast:
9	chr16:30401749..30403997-chr16:30408377..30410909,4	K562	blood:
10	chr16:30409223..30411456-chr16:30453494..30456460,2	MCF-7	breast:
11	chr16:30378819..30383918-chr16:30407597..30413128,8	MCF-7	breast:
12	chr16:30368801..30385970-chr16:30403825..30413311,30	MCF-7	breast:
13	chr16:30061476..30064810-chr16:30408529..30411930,3	MCF-7	breast:
14	chr16:30408965..30411877-chr16:30643615..30646400,2	MCF-7	breast:
15	chr16:30384243..30394929-chr16:30405602..30409736,14	K562	blood:

No data

Variant related genes	Relation type
SEPT1	TF binding region
ENSG00000156858	Chromatin interaction
ENSG00000180096	Chromatin interaction
ENSG00000260219	Chromatin interaction
ENSG00000270466	Chromatin interaction
ENSG00000180209	Chromatin interaction
ENSG00000169221	Chromatin interaction
ENSG00000180035	Chromatin interaction
ENSG00000169217	Chromatin interaction
ENSG00000149926	Chromatin interaction
ENSG00000199787	Chromatin interaction
ENSG00000149925	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs34843513	0.96[EUR][1000 genomes]
rs4072354	0.94[ASW][hapmap];0.81[LWK][hapmap];0.81[MKK][hapmap];0.96[YRI][hapmap]
rs4232893	0.82[YRI][hapmap]
rs4341758	0.85[AFR][1000 genomes]
rs4787644	0.83[ASW][hapmap];0.86[LWK][hapmap];0.96[YRI][hapmap]

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	nsv1065915	chr16:29967090-30486120	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
2	nsv542897	chr16:29967090-30486120	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
3	nsv1056897	chr16:30363683-30457504	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	88 gene(s)	inside rSNPs	diseases
4	nsv905724	chr16:30368591-30438930	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
5	nsv532531	chr16:30370550-30581820	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
6	nsv827612	chr16:30371538-30429862	Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
7	nsv905725	chr16:30376959-30420851	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
8	nsv962197	chr16:30390489-30425618	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
9	nsv1782	chr16:30391812-30410266	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 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	chr16:30407600-30411000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:30407600-30411400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr16:30407800-30410800	Weak transcription	HSMM	muscle
4	chr16:30407800-30410800	Weak transcription	NHDF-Ad	bronchial
5	chr16:30407800-30411000	Weak transcription	Fetal Kidney	kidney
6	chr16:30407800-30411200	Weak transcription	Psoas Muscle	Psoas
7	chr16:30408000-30410000	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr16:30408000-30410200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr16:30408000-30410600	Weak transcription	NH-A	brain
10	chr16:30408000-30410800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr16:30408000-30410800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr16:30408000-30411000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:30408000-30411000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr16:30408000-30411000	Weak transcription	Brain Angular Gyrus	brain
15	chr16:30408000-30411000	Weak transcription	Brain Substantia Nigra	brain
16	chr16:30408000-30411000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr16:30408000-30411000	Weak transcription	Fetal Lung	lung
18	chr16:30408000-30411000	Weak transcription	Right Atrium	heart
19	chr16:30408000-30411000	Weak transcription	GM12878-XiMat	blood
20	chr16:30408000-30411200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr16:30408000-30411200	Weak transcription	HMEC	breast
22	chr16:30408200-30410000	Genic enhancers	Dnd41	blood
23	chr16:30408200-30410200	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr16:30408200-30410200	Genic enhancers	Brain Germinal Matrix	brain
25	chr16:30408200-30410800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr16:30408200-30411000	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr16:30408200-30411200	Weak transcription	Small Intestine	intestine
28	chr16:30408200-30411400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr16:30408400-30410000	Weak transcription	Primary hematopoietic stem cells	blood
30	chr16:30408400-30410000	Strong transcription	Brain Anterior Caudate	brain
31	chr16:30408400-30410000	Strong transcription	Fetal Muscle Trunk	muscle
32	chr16:30408400-30410400	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr16:30408400-30410400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr16:30408400-30410400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr16:30408400-30410600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr16:30408400-30410600	Strong transcription	Fetal Muscle Leg	muscle
37	chr16:30408400-30410800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr16:30408400-30410800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
39	chr16:30408400-30411000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr16:30408400-30411200	Weak transcription	Primary B cells from cord blood	blood
41	chr16:30408600-30410000	Strong transcription	Fetal Stomach	stomach
42	chr16:30408600-30410000	Strong transcription	Left Ventricle	heart
43	chr16:30408600-30410000	Strong transcription	Ovary	ovary
44	chr16:30408600-30410200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr16:30408600-30410200	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr16:30408600-30410200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr16:30408600-30410200	Strong transcription	Esophagus	oesophagus
48	chr16:30408600-30410200	Strong transcription	Placenta	Placenta
49	chr16:30408600-30410200	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr16:30408600-30410200	Strong transcription	A549	lung

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