Variant report

Variant	rs9936636
Chromosome Location	chr16:48404916-48404917
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:48398867..48402806-chr16:48404522..48408280,4	MCF-7	breast:
2	chr16:48404265..48407102-chr16:48407318..48409979,3	K562	blood:
3	chr16:48402282..48407133-chr16:48417266..48420023,6	MCF-7	breast:
4	chr16:48394386..48397097-chr16:48404388..48407355,2	K562	blood:

Variant related genes	Relation type
ENSG00000196470	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs13332870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13335175	1.00[AMR][1000 genomes]
rs13336203	1.00[AMR][1000 genomes]
rs13336441	1.00[AMR][1000 genomes]
rs13336832	1.00[AMR][1000 genomes]
rs13337923	1.00[AMR][1000 genomes]
rs28361908	1.00[AMR][1000 genomes]
rs28379458	1.00[AMR][1000 genomes]
rs28473019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28539217	1.00[AMR][1000 genomes]
rs28599555	1.00[AMR][1000 genomes]
rs28661941	1.00[AMR][1000 genomes]
rs28848294	1.00[AMR][1000 genomes]
rs9924578	0.90[AFR][1000 genomes]
rs9926437	1.00[AMR][1000 genomes]
rs9926749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9927124	1.00[AMR][1000 genomes]
rs9928527	1.00[AMR][1000 genomes]
rs9929780	1.00[AMR][1000 genomes]
rs9930404	0.90[AFR][1000 genomes]
rs9931267	1.00[AMR][1000 genomes]
rs9931866	1.00[AMR][1000 genomes]
rs9932677	1.00[AMR][1000 genomes]
rs9933958	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9934175	1.00[AMR][1000 genomes]
rs9934459	1.00[AMR][1000 genomes]
rs9934918	1.00[AMR][1000 genomes]
rs9936494	1.00[AMR][1000 genomes]
rs9936892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9938115	1.00[AMR][1000 genomes]
rs9938350	1.00[AMR][1000 genomes]
rs9938594	1.00[AMR][1000 genomes]
rs9940237	1.00[AMR][1000 genomes]
rs9941354	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061316	chr16:48264175-48594219	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers 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	38 gene(s)	inside rSNPs	diseases
2	esv1821072	chr16:48268318-48504364	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv833219	chr16:48290595-48459301	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1061708	chr16:48304343-48482594	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv542917	chr16:48304343-48482594	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	esv2758424	chr16:48329437-48479754	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	esv2758645	chr16:48329437-48479754	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS 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	32 gene(s)	inside rSNPs	diseases
8	esv1837150	chr16:48375777-48470715	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	esv1802902	chr16:48394626-48419662	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
10	esv1836876	chr16:48395527-48459558	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
11	esv1842331	chr16:48395527-48459558	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48400200-48409000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr16:48400600-48417600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr16:48400800-48406600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr16:48400800-48417800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:48401000-48405000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr16:48401000-48406800	Weak transcription	Right Atrium	heart
7	chr16:48401000-48407400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr16:48401000-48412600	Weak transcription	Thymus	Thymus
9	chr16:48401200-48409000	Weak transcription	Gastric	stomach
10	chr16:48401400-48406800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr16:48401400-48406800	Weak transcription	Fetal Muscle Leg	muscle
12	chr16:48401400-48407000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr16:48401400-48407000	Weak transcription	Fetal Kidney	kidney
14	chr16:48401400-48407400	Weak transcription	Aorta	Aorta
15	chr16:48401400-48408400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr16:48401400-48408400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr16:48401600-48406200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr16:48401600-48406400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr16:48401600-48406600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr16:48401600-48407400	Weak transcription	HSMM	muscle
21	chr16:48401600-48407600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr16:48401600-48407800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr16:48401600-48412400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr16:48401800-48405000	Weak transcription	Fetal Heart	heart
25	chr16:48401800-48405000	Weak transcription	Fetal Lung	lung
26	chr16:48401800-48405200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr16:48401800-48405200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr16:48401800-48405200	Weak transcription	Osteobl	bone
29	chr16:48401800-48405600	Weak transcription	Colon Smooth Muscle	Colon
30	chr16:48401800-48405600	Weak transcription	Fetal Brain Male	brain
31	chr16:48401800-48405600	Weak transcription	Fetal Brain Female	brain
32	chr16:48401800-48405800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr16:48401800-48406400	Weak transcription	Liver	Liver
34	chr16:48401800-48406400	Weak transcription	Brain Germinal Matrix	brain
35	chr16:48401800-48406600	Weak transcription	Small Intestine	intestine
36	chr16:48401800-48406800	Weak transcription	HSMMtube	muscle
37	chr16:48401800-48407200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr16:48401800-48407400	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr16:48401800-48407400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr16:48401800-48407400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr16:48401800-48407600	Weak transcription	Primary hematopoietic stem cells	blood
42	chr16:48401800-48408000	Weak transcription	Stomach Mucosa	stomach
43	chr16:48401800-48408600	Weak transcription	Primary T cells from cord blood	blood
44	chr16:48401800-48408800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr16:48401800-48410000	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr16:48402000-48405000	Weak transcription	NH-A	brain
47	chr16:48402000-48405800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr16:48402000-48406400	Weak transcription	Brain Anterior Caudate	brain
49	chr16:48402000-48406400	Weak transcription	Brain Hippocampus Middle	brain
50	chr16:48402000-48406600	Weak transcription	Brain Angular Gyrus	brain

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