Variant report

Variant	rs73984346
Chromosome Location	chr2:211045256-211045257
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	chr2:211034743..211038034-chr2:211042238..211045491,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPE-8	chr2:211044349-211045822	NONHSAT076672
2	lnc-RPE-8	chr2:211044349-211045822	FPKM1_group_18220_transcript_5

Variant related genes	Relation type
ENSG00000263530	Chromatin interaction
ENSG00000231294	Chromatin interaction
ENSG00000144445	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs56301246	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56839181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57873720	1.00[AMR][1000 genomes]
rs60728418	1.00[AMR][1000 genomes]
rs60760690	1.00[AMR][1000 genomes]
rs6739874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6745814	1.00[AMR][1000 genomes]
rs73984331	1.00[AMR][1000 genomes]
rs73984335	1.00[AMR][1000 genomes]
rs73984336	1.00[AMR][1000 genomes]
rs73984340	1.00[AMR][1000 genomes]
rs73984343	1.00[AMR][1000 genomes]
rs73984345	1.00[AMR][1000 genomes]
rs73984351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73984352	1.00[AMR][1000 genomes]
rs73984374	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431969	chr2:210682494-211074494	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv1795338	chr2:210758078-211098113	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv1802749	chr2:210905194-211255611	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 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	chr2:211037000-211046600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:211037200-211046800	Weak transcription	Left Ventricle	heart
3	chr2:211037200-211049600	Weak transcription	Aorta	Aorta
4	chr2:211038000-211049200	Weak transcription	Liver	Liver
5	chr2:211039200-211046600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr2:211042800-211045800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:211042800-211046000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr2:211042800-211046400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:211042800-211046400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:211043200-211045800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr2:211043200-211053000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:211044000-211046600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:211044400-211046000	Enhancers	Fetal Kidney	kidney
14	chr2:211044600-211045800	Enhancers	Dnd41	blood
15	chr2:211044600-211046200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr2:211044600-211046200	Enhancers	Thymus	Thymus
17	chr2:211044600-211046400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr2:211044600-211046600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr2:211044600-211046600	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr2:211044600-211047000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr2:211044600-211047200	Enhancers	Fetal Lung	lung
22	chr2:211044800-211045600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:211044800-211046000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr2:211044800-211046200	Weak transcription	Fetal Stomach	stomach
25	chr2:211044800-211046400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:211045000-211045800	Weak transcription	Stomach Mucosa	stomach
27	chr2:211045000-211047000	Enhancers	Gastric	stomach
28	chr2:211045000-211047200	Enhancers	Fetal Thymus	thymus
29	chr2:211045200-211045600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:211045200-211045600	Weak transcription	Pancreas	Pancrea
31	chr2:211045200-211045800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr2:211045200-211046200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:211045200-211046200	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr2:211045200-211046400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr2:211045200-211046800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr2:211045200-211047000	Enhancers	Primary T cells from cord blood	blood

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