Variant report

Variant	rs7191848
Chromosome Location	chr16:71971091-71971092
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:71967972..71970520-chr16:71970736..71973104,2	K562	blood:
2	chr16:71970740..71973966-chr16:71975029..71978024,3	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10500567	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10852507	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11075906	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11639843	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11640135	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11644740	0.85[ASN][1000 genomes]
rs11865456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12149307	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12149325	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12149917	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12445564	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12445641	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12448086	0.90[AFR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12921279	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12921459	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12927691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12934512	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13330178	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17357420	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17358402	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2878494	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs3088285	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs34029919	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34101687	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34664834	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35028754	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35069141	0.81[ASN][1000 genomes]
rs35209006	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35377660	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35404791	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35535529	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35595148	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36182990	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3751820	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4528577	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71384781	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71384782	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71386939	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71386940	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71386942	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7185027	0.82[AFR][1000 genomes]
rs7188591	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7195988	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7197486	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7198834	0.90[AFR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73586164	0.86[ASN][1000 genomes]
rs8046044	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs8049508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8050058	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8052358	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8053906	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs8063657	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9940234	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv1056439	chr16:71916498-72051144	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv1055854	chr16:71922144-72082886	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv906893	chr16:71922663-71988728	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	n/a
6	nsv516948	chr16:71965725-71988728	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71962000-71971200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr16:71962600-71972000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:71963200-71972000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr16:71963200-71972800	Weak transcription	Right Ventricle	heart
5	chr16:71964000-71971400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr16:71964200-71972000	Weak transcription	Psoas Muscle	Psoas
7	chr16:71964800-71971200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr16:71968200-71971600	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr16:71968400-71976400	Weak transcription	K562	blood
10	chr16:71968600-71971200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr16:71968600-71971600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr16:71968600-71971800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr16:71968600-71972600	Weak transcription	Left Ventricle	heart
14	chr16:71968800-71971600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr16:71968800-71971800	Weak transcription	Dnd41	blood
16	chr16:71968800-71972000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr16:71968800-71972400	Weak transcription	Fetal Intestine Small	intestine
18	chr16:71968800-71972400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr16:71968800-71995400	Weak transcription	Right Atrium	heart
20	chr16:71969000-71971200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr16:71969000-71971200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr16:71969000-71971200	Weak transcription	Fetal Lung	lung
23	chr16:71969000-71971600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr16:71969000-71971600	Weak transcription	HepG2	liver
25	chr16:71969000-71971800	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr16:71969200-71971200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr16:71969200-71971600	Weak transcription	Thymus	Thymus
28	chr16:71969200-71972200	Weak transcription	Primary B cells from cord blood	blood
29	chr16:71969200-71976000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr16:71969400-71971200	Weak transcription	NHLF	lung
31	chr16:71969400-71971400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr16:71969400-71971800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr16:71969400-71972000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr16:71969400-71977400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr16:71969600-71971200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr16:71969600-71971200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr16:71969600-71971200	Weak transcription	Duodenum Mucosa	Duodenum
38	chr16:71969600-71971200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr16:71969600-71971400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr16:71969600-71971400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr16:71969600-71971400	Weak transcription	Primary T cells from cord blood	blood
42	chr16:71969600-71971400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr16:71969600-71971400	Weak transcription	Fetal Brain Female	brain
44	chr16:71969600-71971400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr16:71969600-71971600	Weak transcription	Fetal Thymus	thymus
46	chr16:71969600-71971800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr16:71969600-71971800	Weak transcription	Spleen	Spleen
48	chr16:71969600-71972000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr16:71969600-71972000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr16:71969600-71972000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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