Variant report

Variant	rs72931114
Chromosome Location	chr2:39637915-39637916
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:39635276..39640508-chr2:39640941..39645614,10	K562	blood:
2	chr2:39637044..39640702-chr2:39646028..39648764,3	K562	blood:
3	chr2:39635276..39637954-chr2:39640941..39644825,4	K562	blood:
4	chr2:39637192..39639411-chr2:39655516..39658352,2	K562	blood:
5	chr2:39625232..39628414-chr2:39637317..39639794,4	K562	blood:
6	chr2:39635451..39641229-chr2:39641645..39645299,6	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10490304	1.00[AMR][1000 genomes]
rs17023819	1.00[AMR][1000 genomes]
rs17023823	1.00[AMR][1000 genomes]
rs72929191	0.91[AFR][1000 genomes]
rs72929192	1.00[AMR][1000 genomes]
rs72929194	1.00[AMR][1000 genomes]
rs72929198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72929202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72931106	1.00[AMR][1000 genomes]
rs72931107	1.00[AMR][1000 genomes]
rs72931112	1.00[AFR][1000 genomes];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	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

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39603200-39638400	Weak transcription	Hela-S3	cervix
2	chr2:39607600-39643400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:39622600-39643600	Weak transcription	Brain Germinal Matrix	brain
4	chr2:39622800-39643200	Weak transcription	Fetal Brain Male	brain
5	chr2:39622800-39643400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:39627400-39639600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr2:39630800-39640600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:39631000-39638200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr2:39631800-39638600	Weak transcription	Fetal Stomach	stomach
10	chr2:39632200-39638400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:39632400-39638600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:39632400-39643400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:39632600-39639200	Enhancers	Adipose Nuclei	Adipose
14	chr2:39632600-39640400	Weak transcription	Brain Angular Gyrus	brain
15	chr2:39632600-39641400	Enhancers	Fetal Heart	heart
16	chr2:39632800-39638400	Weak transcription	Brain Substantia Nigra	brain
17	chr2:39632800-39639600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:39633000-39638400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:39633000-39638400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:39633000-39640400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:39633000-39641200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr2:39633000-39644400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:39633600-39638000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr2:39634000-39639000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:39634400-39638200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr2:39634400-39641000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr2:39634600-39638400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:39634600-39638800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:39634600-39638800	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr2:39634600-39643800	Weak transcription	Fetal Brain Female	brain
31	chr2:39635000-39638000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:39635000-39640400	Weak transcription	Pancreas	Pancrea
33	chr2:39635000-39644400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:39635200-39638400	Enhancers	A549	lung
35	chr2:39635400-39638400	Enhancers	HSMM	muscle
36	chr2:39635400-39643200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr2:39635600-39638400	Weak transcription	Fetal Intestine Small	intestine
38	chr2:39635600-39638600	Weak transcription	Aorta	Aorta
39	chr2:39635600-39640200	Weak transcription	Liver	Liver
40	chr2:39635600-39640400	Weak transcription	Gastric	stomach
41	chr2:39635600-39643400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr2:39636000-39638400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr2:39636000-39638400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr2:39636000-39638600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr2:39636000-39638600	Weak transcription	Stomach Mucosa	stomach
46	chr2:39636000-39638800	Weak transcription	Right Atrium	heart
47	chr2:39636200-39638400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr2:39636200-39642400	Weak transcription	Primary B cells from cord blood	blood
49	chr2:39636400-39638400	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr2:39636400-39638800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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