Variant report

Variant	rs7196958
Chromosome Location	chr16:31486850-31486851
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31486386..31493720-chr16:31496174..31501149,12	MCF-7	breast:
2	chr16:31486411..31490471-chr16:31517300..31521270,7	K562	blood:
3	chr16:31485677..31488329-chr16:31528918..31531373,2	K562	blood:
4	chr16:31483184..31487045-chr16:31517740..31519918,3	K562	blood:
5	chr16:31486263..31488916-chr16:31711949..31713898,2	MCF-7	breast:
6	chr16:31466606..31474995-chr16:31481116..31490982,25	MCF-7	breast:
7	chr16:31486749..31489738-chr16:31518463..31521140,5	MCF-7	breast:
8	chr16:31486171..31487950-chr16:31523746..31526284,2	K562	blood:
9	chr16:31465649..31475592-chr16:31481764..31491028,24	MCF-7	breast:
10	chr16:31486327..31489778-chr16:31498037..31501156,4	K562	blood:
11	chr16:31485287..31490245-chr16:31497773..31501253,8	MCF-7	breast:
12	chr16:31486548..31488311-chr16:31727435..31729249,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000131797	Chromatin interaction
ENSG00000260740	Chromatin interaction
ENSG00000140675	Chromatin interaction
ENSG00000260625	Chromatin interaction
ENSG00000140691	Chromatin interaction
ENSG00000140688	Chromatin interaction
ENSG00000260267	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs34231527	1.00[AMR][1000 genomes]
rs41420744	1.00[AMR][1000 genomes]
rs41465245	1.00[AMR][1000 genomes]
rs41468344	1.00[AMR][1000 genomes]
rs45466094	1.00[AMR][1000 genomes]
rs56809455	1.00[AMR][1000 genomes]
rs58372645	1.00[AMR][1000 genomes]
rs59932244	1.00[AMR][1000 genomes]
rs7184483	1.00[AMR][1000 genomes]
rs74015511	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392534	chr16:31303038-31573066	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases
2	nsv833194	chr16:31358179-31528545	Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
3	nsv905747	chr16:31394179-31888684	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	123 gene(s)	inside rSNPs	diseases
4	nsv905748	chr16:31427678-31559220	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases
5	nsv905749	chr16:31427678-31565597	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	96 gene(s)	inside rSNPs	diseases
6	nsv905750	chr16:31427678-31587662	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	98 gene(s)	inside rSNPs	diseases
7	nsv905751	chr16:31431360-31489033	Bivalent Enhancer Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	82 gene(s)	inside rSNPs	diseases
8	nsv905752	chr16:31436932-31565597	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	95 gene(s)	inside rSNPs	diseases
9	nsv905753	chr16:31436932-31587662	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
10	nsv905754	chr16:31451699-31565597	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31484200-31487200	Weak transcription	Esophagus	oesophagus
2	chr16:31484200-31487200	Weak transcription	Gastric	stomach
3	chr16:31484200-31487200	Weak transcription	Stomach Mucosa	stomach
4	chr16:31484200-31487600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr16:31484200-31487600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr16:31484400-31487600	Weak transcription	Small Intestine	intestine
7	chr16:31484400-31487800	Genic enhancers	Fetal Muscle Leg	muscle
8	chr16:31484400-31489200	Enhancers	Fetal Heart	heart
9	chr16:31484400-31489400	Genic enhancers	Fetal Muscle Trunk	muscle
10	chr16:31484400-31492000	Weak transcription	Right Atrium	heart
11	chr16:31484600-31488600	Weak transcription	Brain Substantia Nigra	brain
12	chr16:31484600-31489400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:31484800-31487200	Weak transcription	Liver	Liver
14	chr16:31484800-31487200	Genic enhancers	Fetal Intestine Small	intestine
15	chr16:31484800-31487600	Genic enhancers	Fetal Stomach	stomach
16	chr16:31484800-31489000	Strong transcription	Fetal Lung	lung
17	chr16:31484800-31489400	Strong transcription	Ovary	ovary
18	chr16:31484800-31489600	Strong transcription	Aorta	Aorta
19	chr16:31485000-31487000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr16:31485000-31487200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr16:31485000-31487200	Weak transcription	Pancreas	Pancrea
22	chr16:31485000-31487200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr16:31485000-31487200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr16:31485000-31487400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr16:31485000-31487400	Strong transcription	HUVEC	blood vessel
26	chr16:31485000-31487600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr16:31485000-31490000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr16:31485000-31490800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr16:31485200-31487000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr16:31485200-31489600	Strong transcription	Right Ventricle	heart
31	chr16:31485200-31489800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr16:31485200-31490600	Weak transcription	HSMMtube	muscle
33	chr16:31485400-31487400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr16:31485400-31487600	Genic enhancers	Duodenum Smooth Muscle	Duodenum
35	chr16:31485400-31488800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr16:31485600-31487400	Strong transcription	HSMM	muscle
37	chr16:31485600-31489400	Strong transcription	A549	lung
38	chr16:31485600-31489600	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr16:31485800-31487000	Strong transcription	Colonic Mucosa	Colon
40	chr16:31485800-31489600	Strong transcription	Left Ventricle	heart
41	chr16:31485800-31491200	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr16:31486000-31487000	Strong transcription	Placenta	Placenta
43	chr16:31486000-31487200	Strong transcription	Lung	lung
44	chr16:31486000-31487200	Weak transcription	Spleen	Spleen
45	chr16:31486000-31487400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr16:31486000-31487800	Genic enhancers	Colon Smooth Muscle	Colon
47	chr16:31486200-31487200	Weak transcription	Brain Hippocampus Middle	brain
48	chr16:31486200-31488600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr16:31486200-31490000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr16:31486200-31491000	Strong transcription	Osteobl	bone

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