Variant report

Variant	rs12991701
Chromosome Location	chr2:39970438-39970439
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	chr2:39969831..39971632-chr2:39972593..39975099,2	MCF-7	breast:
2	chr2:39967992..39971094-chr2:39972706..39975248,3	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10196026	0.80[YRI][hapmap];0.85[AFR][1000 genomes]
rs12712654	0.90[CEU][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12712655	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13393172	0.89[CEU][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6749057	0.89[CEU][hapmap];0.87[AMR][1000 genomes];0.98[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	nsv833870	chr2:39837022-40026024	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv833881	chr2:39914558-40067256	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' 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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39944400-39976600	Weak transcription	Fetal Brain Male	brain
2	chr2:39957400-39971200	Strong transcription	Primary T cells from cord blood	blood
3	chr2:39959000-39971200	Strong transcription	Fetal Thymus	thymus
4	chr2:39959400-39971000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr2:39959400-39974200	Strong transcription	Primary B cells from cord blood	blood
6	chr2:39960000-39971000	Strong transcription	K562	blood
7	chr2:39960000-39971200	Strong transcription	Fetal Muscle Trunk	muscle
8	chr2:39960000-39971400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr2:39960000-39971800	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr2:39960200-39971000	Strong transcription	Fetal Muscle Leg	muscle
11	chr2:39960200-39973800	Strong transcription	Primary hematopoietic stem cells	blood
12	chr2:39960200-39987200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:39960400-39973600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:39960400-39983000	Weak transcription	Stomach Mucosa	stomach
15	chr2:39961200-39974600	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr2:39961400-39984200	Weak transcription	Colonic Mucosa	Colon
17	chr2:39961600-39971200	Strong transcription	Dnd41	blood
18	chr2:39961800-39971200	Strong transcription	Duodenum Mucosa	Duodenum
19	chr2:39962000-39970600	Strong transcription	Primary B cells from peripheral blood	blood
20	chr2:39962000-39971000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr2:39962000-39971200	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr2:39962200-39970800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr2:39962200-39971000	Strong transcription	Stomach Smooth Muscle	stomach
24	chr2:39962200-39971200	Strong transcription	Adipose Nuclei	Adipose
25	chr2:39962200-39986800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:39962200-39993200	Strong transcription	Liver	Liver
27	chr2:39962400-39971000	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr2:39962600-39971000	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:39962800-39971000	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr2:39962800-39971800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr2:39962800-39980200	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr2:39963200-39982000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr2:39963400-39971000	Strong transcription	Ovary	ovary
34	chr2:39964000-39976800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr2:39964200-39976800	Weak transcription	Brain Substantia Nigra	brain
36	chr2:39964200-39977000	Weak transcription	Brain Angular Gyrus	brain
37	chr2:39964200-39977400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr2:39964200-39984200	Weak transcription	Psoas Muscle	Psoas
39	chr2:39964400-39977000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr2:39964800-39983000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr2:39965000-39970800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:39965200-39976600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:39965200-39980000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr2:39965200-39983000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr2:39965200-40005000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:39965200-40005400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr2:39965400-39970600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:39965400-39970800	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr2:39965400-39970800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr2:39965400-39972400	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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