Variant report

Variant	rs9938634
Chromosome Location	chr16:12836212-12836213
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:12834774..12836275-chr16:12843130..12845586,2	K562	blood:
2	chr16:12834137..12836275-chr16:12843130..12846539,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28445351	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28639978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28816685	0.85[EUR][1000 genomes]
rs9940360	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1051242	chr16:12482972-12897243	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv542749	chr16:12482972-12897243	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer 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 miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1035581	chr16:12516946-12863700	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv1051607	chr16:12522130-13347676	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv542750	chr16:12522130-13347676	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1053617	chr16:12730958-12871639	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv869284	chr16:12735729-13533462	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers 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 miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv1052802	chr16:12766360-12964248	Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
10	nsv1036493	chr16:12817416-12881078	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
11	esv2751547	chr16:12817920-12882336	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
12	esv2751548	chr16:12817920-12892036	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
13	nsv1052892	chr16:12824219-12881078	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
14	nsv525286	chr16:12826785-12878592	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
15	nsv571480	chr16:12826785-12878592	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
16	nsv571481	chr16:12826785-12880446	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
17	esv2751549	chr16:12829006-12880446	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12798600-12836800	Weak transcription	Placenta	Placenta
2	chr16:12824800-12847800	Weak transcription	Osteobl	bone
3	chr16:12826600-12851000	Weak transcription	Brain Angular Gyrus	brain
4	chr16:12826800-12836400	Weak transcription	Left Ventricle	heart
5	chr16:12826800-12836800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr16:12826800-12838400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr16:12826800-12844200	Weak transcription	HUVEC	blood vessel
8	chr16:12827000-12836400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr16:12827000-12836800	Weak transcription	Brain Anterior Caudate	brain
10	chr16:12827000-12838400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr16:12827600-12836800	Weak transcription	Colon Smooth Muscle	Colon
12	chr16:12827800-12838400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr16:12828000-12838400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr16:12828800-12838000	Weak transcription	A549	lung
15	chr16:12829000-12836800	Weak transcription	Lung	lung
16	chr16:12829000-12838000	Weak transcription	Esophagus	oesophagus
17	chr16:12829000-12838000	Weak transcription	Pancreas	Pancrea
18	chr16:12829000-12838200	Weak transcription	Fetal Intestine Small	intestine
19	chr16:12829000-12838400	Weak transcription	Spleen	Spleen
20	chr16:12829000-12838600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr16:12829000-12839800	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr16:12830000-12838200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr16:12830000-12838800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr16:12830600-12838200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr16:12831000-12837000	Strong transcription	HepG2	liver
26	chr16:12831800-12837200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr16:12832000-12838200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr16:12832000-12838600	Weak transcription	Fetal Intestine Large	intestine
29	chr16:12832600-12837400	Weak transcription	Brain Substantia Nigra	brain
30	chr16:12832800-12836600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr16:12833800-12837000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr16:12833800-12838200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr16:12833800-12838200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr16:12833800-12838600	Weak transcription	Right Ventricle	heart
35	chr16:12834000-12837800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr16:12834000-12838000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr16:12834000-12838000	Weak transcription	Adipose Nuclei	Adipose
38	chr16:12834800-12836600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr16:12834800-12838200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr16:12834800-12873600	Weak transcription	Aorta	Aorta
41	chr16:12835000-12837000	Weak transcription	Colonic Mucosa	Colon
42	chr16:12835000-12838400	Weak transcription	Brain Hippocampus Middle	brain
43	chr16:12835400-12838200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr16:12835400-12838600	Weak transcription	Primary B cells from cord blood	blood
45	chr16:12835600-12838000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr16:12835600-12838200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr16:12835600-12838200	Weak transcription	HSMM	muscle
48	chr16:12835600-12846800	Weak transcription	Liver	Liver
49	chr16:12835600-12848000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr16:12835600-12863400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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