Variant report

Variant	rs72931129
Chromosome Location	chr2:39647670-39647671
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:39647003..39648526-chr2:39663510..39665031,2	K562	blood:
2	chr2:39647003..39648741-chr2:39663510..39666344,3	K562	blood:
3	chr2:39637044..39640702-chr2:39646028..39648764,3	K562	blood:
4	chr2:39646458..39648689-chr2:39648799..39652101,4	K562	blood:

Variant related genes	Relation type
ENSG00000231312	Chromatin interaction
ENSG00000011566	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12105018	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57107827	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs57164521	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs58019817	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs61344670	0.82[AMR][1000 genomes]
rs6706951	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6722096	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6725496	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6725704	0.84[AMR][1000 genomes]
rs6759388	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72914206	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs72925278	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72925283	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72925290	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72927103	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72927107	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72927108	0.91[AMR][1000 genomes]
rs72927110	0.91[AMR][1000 genomes]
rs72927119	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72927143	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72929164	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72929184	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72931131	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72931135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72931145	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72931150	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72931159	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72931161	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72931172	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7566368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7581123	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7592925	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7609233	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1827292	chr2:39385155-39675339	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv1812828	chr2:39396457-39675339	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv997934	chr2:39473548-39751029	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv2695	chr2:39643221-39688015	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr2:39636600-39651400	Weak transcription	Fetal Thymus	thymus
2	chr2:39637200-39659000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:39637600-39651400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr2:39638800-39652400	Weak transcription	Hela-S3	cervix
5	chr2:39639000-39649000	Weak transcription	Primary T cells from cord blood	blood
6	chr2:39639200-39658000	Weak transcription	Fetal Stomach	stomach
7	chr2:39639600-39657200	Weak transcription	HMEC	breast
8	chr2:39640800-39649200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:39640800-39652400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:39640800-39656800	Weak transcription	NH-A	brain
11	chr2:39640800-39660000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:39641000-39651600	Weak transcription	HSMMtube	muscle
13	chr2:39641000-39656600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:39641200-39650200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr2:39641200-39659600	Weak transcription	Brain Angular Gyrus	brain
16	chr2:39641400-39649200	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr2:39644200-39650000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:39644200-39661600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:39644400-39654200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:39644400-39654200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:39644800-39650600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:39645000-39649000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:39645000-39649400	Weak transcription	Dnd41	blood
24	chr2:39645000-39651400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:39645000-39658800	Weak transcription	Brain Anterior Caudate	brain
26	chr2:39645200-39651600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:39645200-39658200	Weak transcription	Right Ventricle	heart
28	chr2:39645400-39651400	Weak transcription	Left Ventricle	heart
29	chr2:39646000-39652400	Weak transcription	Brain Substantia Nigra	brain
30	chr2:39646000-39660200	Weak transcription	Fetal Intestine Small	intestine
31	chr2:39646200-39648000	Enhancers	NHDF-Ad	bronchial
32	chr2:39646200-39650400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr2:39646200-39651600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr2:39646200-39652000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr2:39646200-39653200	Weak transcription	Stomach Mucosa	stomach
36	chr2:39646200-39656200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:39646200-39658000	Weak transcription	Liver	Liver
38	chr2:39646600-39648400	Enhancers	Aorta	Aorta
39	chr2:39646800-39647800	Enhancers	Ovary	ovary
40	chr2:39646800-39648000	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr2:39646800-39648400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:39647000-39647800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:39647000-39647800	Enhancers	Right Atrium	heart
44	chr2:39647000-39647800	Enhancers	Spleen	Spleen
45	chr2:39647000-39648000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr2:39647000-39657400	Weak transcription	Adipose Nuclei	Adipose
47	chr2:39647200-39647800	Enhancers	Psoas Muscle	Psoas
48	chr2:39647200-39649200	Weak transcription	K562	blood
49	chr2:39647200-39651600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr2:39647200-39652600	Weak transcription	Fetal Heart	heart

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