Variant report

Variant	rs7204991
Chromosome Location	chr16:72913259-72913260
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:72906922..72909977-chr16:72911747..72914412,3	MCF-7	breast:
2	chr16:72901309..72904855-chr16:72910459..72914391,3	MCF-7	breast:
3	chr16:72910303..72916388-chr16:73088434..73093431,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000140836	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12445722	0.82[CHB][hapmap];0.91[YRI][hapmap];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12445743	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16971335	0.82[CHB][hapmap];0.93[ASN][1000 genomes]
rs16971338	0.89[ASN][1000 genomes]
rs4461079	0.82[CHB][hapmap];0.89[ASN][1000 genomes]
rs4788665	1.00[EUR][1000 genomes]
rs60056526	0.87[ASN][1000 genomes]
rs7190473	0.82[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7193479	0.91[ASN][1000 genomes]
rs7197411	0.82[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7201079	0.87[ASN][1000 genomes]
rs740177	1.00[EUR][1000 genomes]
rs9888808	0.87[ASN][1000 genomes]
rs9889054	0.87[ASN][1000 genomes]
rs9936586	0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv572959	chr16:72890216-72923327	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72883400-72918800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr16:72895200-72918000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr16:72907800-72916400	Weak transcription	Fetal Brain Female	brain
4	chr16:72908400-72914400	Enhancers	Fetal Intestine Large	intestine
5	chr16:72909000-72913400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr16:72909000-72914400	Enhancers	Placenta	Placenta
7	chr16:72909400-72914000	Enhancers	Fetal Muscle Trunk	muscle
8	chr16:72909400-72915600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr16:72909400-72918200	Weak transcription	Brain Substantia Nigra	brain
10	chr16:72909600-72918400	Weak transcription	Brain Anterior Caudate	brain
11	chr16:72910000-72916200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr16:72910200-72916400	Weak transcription	Brain Hippocampus Middle	brain
13	chr16:72910400-72920400	Weak transcription	Fetal Kidney	kidney
14	chr16:72910400-72925200	Weak transcription	Primary B cells from cord blood	blood
15	chr16:72910600-72915400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr16:72910800-72916400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr16:72910800-72923600	Weak transcription	GM12878-XiMat	blood
18	chr16:72911000-72913400	Enhancers	Right Ventricle	heart
19	chr16:72911200-72918200	Weak transcription	Colon Smooth Muscle	Colon
20	chr16:72911200-72918200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr16:72911400-72914400	Enhancers	Spleen	Spleen
22	chr16:72911600-72918400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr16:72911800-72914000	Strong transcription	Fetal Stomach	stomach
24	chr16:72911800-72916200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr16:72911800-72918600	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr16:72912000-72918200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr16:72912000-72919000	Weak transcription	Gastric	stomach
28	chr16:72912200-72913600	Enhancers	Fetal Heart	heart
29	chr16:72912200-72914000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr16:72912400-72918000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr16:72912400-72920200	Weak transcription	Colonic Mucosa	Colon
32	chr16:72912400-72927400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr16:72912400-72928200	Weak transcription	Small Intestine	intestine
34	chr16:72912600-72916400	Weak transcription	Aorta	Aorta
35	chr16:72912600-72926000	Weak transcription	NHEK	skin
36	chr16:72912800-72913800	Genic enhancers	Fetal Intestine Small	intestine
37	chr16:72912800-72914000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr16:72912800-72917600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr16:72912800-72917800	Weak transcription	Adipose Nuclei	Adipose
40	chr16:72912800-72919000	Weak transcription	Pancreas	Pancrea
41	chr16:72912800-72919000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr16:72912800-72919000	Weak transcription	A549	lung
43	chr16:72912800-72921000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr16:72912800-72921600	Weak transcription	Dnd41	blood
45	chr16:72913000-72913400	Weak transcription	HUVEC	blood vessel
46	chr16:72913000-72913600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr16:72913000-72913600	Enhancers	HepG2	liver
48	chr16:72913000-72913800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr16:72913000-72914000	Weak transcription	Psoas Muscle	Psoas
50	chr16:72913000-72914200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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