Variant report

Variant	rs73914447
Chromosome Location	chr2:7123173-7123174
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs16865777	1.00[AFR][1000 genomes]
rs56246937	1.00[AFR][1000 genomes]
rs58355408	1.00[AFR][1000 genomes]
rs73914449	1.00[AFR][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	nsv833326	chr2:6985027-7142564	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv2598	chr2:7088737-7133415	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:7083800-7129600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr2:7097200-7126200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:7099000-7123600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:7101000-7130000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr2:7101200-7126200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:7101200-7144000	Weak transcription	Aorta	Aorta
7	chr2:7101200-7154000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr2:7101800-7126200	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr2:7106200-7123200	Strong transcription	Primary T cells from cord blood	blood
10	chr2:7109200-7137000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr2:7111600-7126400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr2:7113600-7123600	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr2:7114400-7126200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr2:7115800-7148800	Weak transcription	Esophagus	oesophagus
15	chr2:7117600-7126200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:7118200-7123200	Weak transcription	Fetal Brain Male	brain
17	chr2:7118400-7123200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr2:7119200-7126800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:7119600-7123200	Weak transcription	Spleen	Spleen
20	chr2:7120800-7126200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr2:7121000-7123400	Weak transcription	Brain Germinal Matrix	brain
22	chr2:7121000-7126400	Enhancers	Brain Anterior Caudate	brain
23	chr2:7121200-7126200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:7121200-7126200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:7121200-7126200	Weak transcription	Dnd41	blood
26	chr2:7121200-7130800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:7121200-7145400	Weak transcription	Thymus	Thymus
28	chr2:7121400-7123200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:7121400-7124000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr2:7121400-7129400	Weak transcription	Fetal Thymus	thymus
31	chr2:7121400-7148200	Weak transcription	Fetal Intestine Small	intestine
32	chr2:7121800-7125600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr2:7121800-7130200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:7122000-7126200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr2:7122000-7128000	Enhancers	Pancreas	Pancrea
36	chr2:7122200-7123800	Enhancers	Fetal Lung	lung
37	chr2:7122200-7124400	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr2:7122200-7126200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:7122200-7126200	Enhancers	Brain Substantia Nigra	brain
40	chr2:7122400-7123400	Enhancers	Fetal Kidney	kidney
41	chr2:7122400-7124600	Enhancers	Adipose Nuclei	Adipose
42	chr2:7122400-7126200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr2:7122600-7123800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr2:7122600-7123800	Enhancers	Colon Smooth Muscle	Colon
45	chr2:7122600-7124800	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr2:7122600-7126200	Enhancers	Brain Hippocampus Middle	brain
47	chr2:7122600-7126800	Enhancers	Brain Cingulate Gyrus	brain
48	chr2:7122800-7123600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:7122800-7124000	Enhancers	Fetal Brain Female	brain
50	chr2:7122800-7124000	Enhancers	Fetal Heart	heart

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