Variant report

Variant	rs72908274
Chromosome Location	chr2:173771471-173771472
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	chr2:173761351..173763071-chr2:173771156..173774150,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DLX2-12	chr2:173770689-173771798	refGeneNc_3635_NR_033882

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10514633	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1104635	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17704262	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17704332	0.90[EUR][1000 genomes]
rs17704976	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17705358	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17705390	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17705429	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17705626	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17705739	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17705834	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17705852	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17706174	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17706349	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17706854	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17706880	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17755063	0.90[EUR][1000 genomes]
rs17755348	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17756405	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17756703	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17756739	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17756834	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17756942	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17757877	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72900203	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72900214	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72900223	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72900226	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72900228	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72900229	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72900230	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72900235	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72900240	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72900243	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72900248	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72902287	0.90[EUR][1000 genomes]
rs72902296	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72906101	0.83[AMR][1000 genomes]
rs72906193	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72906194	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72906196	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72908114	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72908118	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72908120	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72908147	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72908174	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72908191	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72908195	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72908196	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72908198	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72908199	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72908213	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72908214	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72908215	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72908218	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72908222	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72908226	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72908230	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72908233	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72908246	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72908248	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72908250	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72908256	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72908260	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72908277	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72908283	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72908285	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7420491	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs951314	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs951315	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv834459	chr2:173735192-173926750	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173764400-173792600	Weak transcription	Fetal Intestine Small	intestine
2	chr2:173764800-173776000	Weak transcription	Spleen	Spleen
3	chr2:173767000-173776600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:173769200-173771600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:173769200-173792400	Weak transcription	Fetal Kidney	kidney
6	chr2:173769800-173771600	Enhancers	Fetal Heart	heart
7	chr2:173770400-173771600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr2:173770400-173771600	Enhancers	Colon Smooth Muscle	Colon
9	chr2:173770600-173771600	Enhancers	Adipose Nuclei	Adipose
10	chr2:173770600-173771800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr2:173770600-173771800	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr2:173770800-173771600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr2:173770800-173771800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr2:173770800-173772000	Enhancers	Left Ventricle	heart
15	chr2:173771000-173771600	Enhancers	H9 Cell Line	embryonic stem cell
16	chr2:173771000-173771600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr2:173771000-173771600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr2:173771000-173771600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:173771000-173771600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:173771000-173771600	Enhancers	Brain Hippocampus Middle	brain
21	chr2:173771000-173771800	Enhancers	Brain Germinal Matrix	brain
22	chr2:173771000-173771800	Enhancers	Fetal Muscle Leg	muscle
23	chr2:173771000-173771800	Enhancers	Lung	lung
24	chr2:173771000-173771800	Enhancers	Right Ventricle	heart
25	chr2:173771000-173771800	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr2:173771000-173772000	Enhancers	Right Atrium	heart
27	chr2:173771200-173771600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:173771200-173771600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:173771200-173771600	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr2:173771200-173771600	Enhancers	Fetal Thymus	thymus
31	chr2:173771200-173771600	Enhancers	Psoas Muscle	Psoas
32	chr2:173771200-173771800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr2:173771200-173771800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:173771200-173771800	Enhancers	Fetal Muscle Trunk	muscle
35	chr2:173771400-173777000	Weak transcription	Brain Angular Gyrus	brain

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