Variant report

Variant	rs73036471
Chromosome Location	chr2:189199847-189199848
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189198100..189200687-chr2:189228875..189230622,2	MCF-7	breast:
2	chr2:189181542..189183620-chr2:189198410..189201258,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10168173	1.00[EUR][1000 genomes]
rs10497688	1.00[EUR][1000 genomes]
rs11678294	0.97[AFR][1000 genomes]
rs11683340	0.97[AFR][1000 genomes]
rs13393870	1.00[EUR][1000 genomes]
rs13394334	1.00[EUR][1000 genomes]
rs13430185	1.00[EUR][1000 genomes]
rs13430412	1.00[EUR][1000 genomes]
rs16829836	1.00[EUR][1000 genomes]
rs16829866	1.00[EUR][1000 genomes]
rs16829915	1.00[EUR][1000 genomes]
rs16829922	1.00[EUR][1000 genomes]
rs56787383	1.00[EUR][1000 genomes]
rs58715158	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58718952	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58765845	1.00[EUR][1000 genomes]
rs59058494	1.00[EUR][1000 genomes]
rs59329932	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60483729	1.00[EUR][1000 genomes]
rs60885306	1.00[EUR][1000 genomes]
rs61163899	1.00[EUR][1000 genomes]
rs6705443	1.00[EUR][1000 genomes]
rs6709650	1.00[EUR][1000 genomes]
rs6716922	1.00[EUR][1000 genomes]
rs6721812	1.00[EUR][1000 genomes]
rs6757707	1.00[EUR][1000 genomes]
rs73036479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73036496	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73039667	1.00[EUR][1000 genomes]
rs73039680	1.00[EUR][1000 genomes]
rs73039697	1.00[EUR][1000 genomes]
rs73039700	1.00[EUR][1000 genomes]
rs73040411	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73040428	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73040439	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73040441	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73040442	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73040450	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73040454	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73041610	1.00[EUR][1000 genomes]
rs73041636	1.00[EUR][1000 genomes]
rs73041644	1.00[EUR][1000 genomes]
rs73041648	1.00[EUR][1000 genomes]
rs73041649	1.00[EUR][1000 genomes]
rs7340152	1.00[EUR][1000 genomes]
rs7560857	1.00[EUR][1000 genomes]
rs7577096	1.00[EUR][1000 genomes]
rs7586703	1.00[EUR][1000 genomes]
rs7588114	1.00[EUR][1000 genomes]
rs7592433	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7592539	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7596417	1.00[EUR][1000 genomes]
rs7597930	1.00[EUR][1000 genomes]
rs7598380	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7599101	1.00[EUR][1000 genomes]
rs9653310	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv431890	chr2:189175905-189202876	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1010330	chr2:189182307-189265614	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv584053	chr2:189184422-189245515	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv999135	chr2:189184937-189265614	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv584054	chr2:189185726-189233419	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189183600-189205000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:189183600-189205400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:189187800-189204600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:189188800-189210600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:189192000-189205000	Weak transcription	Fetal Stomach	stomach
6	chr2:189192200-189225200	Weak transcription	Placenta	Placenta
7	chr2:189194600-189218200	Weak transcription	Gastric	stomach
8	chr2:189195400-189200800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:189197200-189200600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr2:189197200-189200600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:189197200-189200600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr2:189197400-189200000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr2:189197400-189200400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr2:189198000-189202000	Weak transcription	Pancreas	Pancrea
15	chr2:189198600-189201200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:189198600-189209000	Weak transcription	Fetal Kidney	kidney
17	chr2:189198800-189201200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:189198800-189204000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr2:189198800-189205000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:189198800-189206000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr2:189199000-189200600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr2:189199000-189210000	Weak transcription	Colon Smooth Muscle	Colon
23	chr2:189199200-189200200	Weak transcription	Ovary	ovary
24	chr2:189199200-189201200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:189199200-189204200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr2:189199400-189200000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:189199400-189201200	Weak transcription	Fetal Lung	lung
28	chr2:189199400-189202000	Weak transcription	Psoas Muscle	Psoas
29	chr2:189199400-189202400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr2:189199400-189204000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr2:189199400-189210800	Weak transcription	HUVEC	blood vessel
32	chr2:189199400-189247600	Weak transcription	Aorta	Aorta
33	chr2:189199800-189200800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:189199800-189203600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr2:189199800-189209000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr2:189199800-189212000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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