Variant report

Variant	rs72931112
Chromosome Location	chr2:39633931-39633932
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:39632241..39634233-chr2:39662700..39665171,2	MCF-7	breast:
2	chr2:39633573..39637306-chr2:39660675..39665702,6	MCF-7	breast:
3	chr2:39629463..39631095-chr2:39633631..39635897,2	K562	blood:
4	chr2:39627754..39629424-chr2:39632198..39633991,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000011566	Chromatin interaction
ENSG00000231312	Chromatin interaction

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]
rs72931114	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:114 , 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	chr2:39620200-39635600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:39622000-39635400	Weak transcription	HSMM	muscle
5	chr2:39622600-39643600	Weak transcription	Brain Germinal Matrix	brain
6	chr2:39622800-39643200	Weak transcription	Fetal Brain Male	brain
7	chr2:39622800-39643400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:39625400-39634400	Weak transcription	Fetal Intestine Large	intestine
9	chr2:39626800-39634200	Weak transcription	Fetal Kidney	kidney
10	chr2:39626800-39635800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr2:39627000-39636600	Weak transcription	Osteobl	bone
12	chr2:39627400-39634800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:39627400-39635000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:39627400-39636600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:39627400-39639600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr2:39628200-39635000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr2:39628800-39634800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr2:39629800-39635400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:39630200-39635000	Weak transcription	Thymus	Thymus
20	chr2:39630400-39634000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:39630400-39637400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:39630600-39635400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:39630600-39635800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr2:39630800-39634400	Weak transcription	Primary T cells from cord blood	blood
25	chr2:39630800-39634400	Weak transcription	Dnd41	blood
26	chr2:39630800-39635400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr2:39630800-39635400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr2:39630800-39636400	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr2:39630800-39640600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:39631000-39634200	Weak transcription	Liver	Liver
31	chr2:39631000-39634200	Weak transcription	HUVEC	blood vessel
32	chr2:39631000-39634400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr2:39631000-39634600	Weak transcription	Small Intestine	intestine
34	chr2:39631000-39638200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr2:39631200-39634600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:39631200-39634800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:39631400-39634600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr2:39631400-39634600	Weak transcription	Placenta	Placenta
39	chr2:39631400-39634800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr2:39631600-39634000	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr2:39631600-39636400	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr2:39631600-39636800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr2:39631600-39637000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr2:39631600-39637200	Weak transcription	Fetal Muscle Leg	muscle
45	chr2:39631800-39638600	Weak transcription	Fetal Stomach	stomach
46	chr2:39632200-39634000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr2:39632200-39634200	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr2:39632200-39634600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr2:39632200-39634800	Weak transcription	Stomach Mucosa	stomach
50	chr2:39632200-39637600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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