Variant report

Variant	rs73954954
Chromosome Location	chr2:111898452-111898453
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:111898288..111899933-chr2:111909236..111912123,2	MCF-7	breast:
2	chr2:111879518..111881472-chr2:111897535..111899435,2	K562	blood:

Variant related genes	Relation type
ENSG00000153094	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10181467	1.00[AMR][1000 genomes]
rs55727409	1.00[AMR][1000 genomes]
rs73954945	0.91[AFR][1000 genomes]
rs73954984	1.00[AMR][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	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv834331	chr2:111812139-112004678	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111881200-111904200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:111881200-111909600	Weak transcription	NHLF	lung
3	chr2:111881200-111912800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:111881600-111901000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr2:111881600-111904200	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:111881800-111900800	Weak transcription	Fetal Brain Male	brain
7	chr2:111881800-111908600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:111881800-111909600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:111881800-111919800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:111883400-111907800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:111883400-111909400	Weak transcription	Aorta	Aorta
12	chr2:111883400-111912600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr2:111883600-111909400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:111883600-111909600	Weak transcription	Small Intestine	intestine
15	chr2:111883800-111904000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:111884000-111901600	Weak transcription	Hela-S3	cervix
17	chr2:111884600-111909400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr2:111884800-111925400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:111886200-111900800	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr2:111887000-111902600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:111887400-111912000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:111887600-111899400	Weak transcription	Colonic Mucosa	Colon
23	chr2:111889800-111900800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr2:111890600-111914400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr2:111891400-111905800	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr2:111891800-111902600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:111892400-111899000	Strong transcription	Fetal Intestine Large	intestine
28	chr2:111892800-111898800	Strong transcription	Fetal Intestine Small	intestine
29	chr2:111892800-111903000	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr2:111893000-111898800	Strong transcription	Primary T cells from cord blood	blood
31	chr2:111893000-111899000	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr2:111893000-111903000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:111893200-111898800	Strong transcription	K562	blood
34	chr2:111893400-111898800	Strong transcription	Dnd41	blood
35	chr2:111893400-111900000	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr2:111893400-111903400	Strong transcription	Fetal Thymus	thymus
37	chr2:111893400-111906000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:111893600-111899000	Strong transcription	Primary B cells from cord blood	blood
39	chr2:111893600-111903200	Strong transcription	Thymus	Thymus
40	chr2:111893600-111905600	Weak transcription	Fetal Heart	heart
41	chr2:111893600-111909200	Weak transcription	Brain Substantia Nigra	brain
42	chr2:111893600-111913400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:111893600-111916800	Weak transcription	HSMM	muscle
44	chr2:111893600-111918600	Weak transcription	Colon Smooth Muscle	Colon
45	chr2:111893800-111900800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:111893800-111902200	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr2:111893800-111903000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:111893800-111905600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr2:111893800-111908400	Weak transcription	Spleen	Spleen
50	chr2:111894000-111908200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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