Variant report

Variant	rs930624
Chromosome Location	chr2:173843127-173843128
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:173818940..173821584-chr2:173840789..173843259,2	K562	blood:
2	chr2:173840817..173843158-chr2:173885041..173887379,4	MCF-7	breast:
3	chr2:173842376..173845001-chr2:173860642..173863497,2	MCF-7	breast:
4	chr2:173840982..173843855-chr2:173843865..173846524,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1446979	0.90[AMR][1000 genomes]
rs1446980	0.86[ASW][hapmap];0.88[MKK][hapmap];1.00[AMR][1000 genomes]
rs1823153	0.90[AMR][1000 genomes]
rs2123506	1.00[AMR][1000 genomes]
rs2553004	0.81[AMR][1000 genomes]
rs2592938	0.81[AMR][1000 genomes]
rs2592940	0.90[AMR][1000 genomes]
rs2592945	1.00[AMR][1000 genomes]
rs2676503	1.00[AMR][1000 genomes]
rs2676516	0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834459	chr2:173735192-173926750	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats 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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173832200-173850000	Weak transcription	Brain Anterior Caudate	brain
2	chr2:173832600-173850200	Weak transcription	Brain Hippocampus Middle	brain
3	chr2:173833800-173845000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:173833800-173855600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:173833800-173859000	Weak transcription	Fetal Intestine Small	intestine
6	chr2:173833800-173860800	Weak transcription	Right Ventricle	heart
7	chr2:173834200-173855800	Weak transcription	Brain Angular Gyrus	brain
8	chr2:173835800-173886800	Weak transcription	Lung	lung
9	chr2:173837600-173843600	Weak transcription	Liver	Liver
10	chr2:173840400-173843600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr2:173840600-173843400	Enhancers	Thymus	Thymus
12	chr2:173840800-173843200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr2:173840800-173843400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:173840800-173843400	Enhancers	Fetal Thymus	thymus
15	chr2:173841200-173843600	Enhancers	Placenta Amnion	Placenta Amnion
16	chr2:173841400-173843200	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr2:173841400-173843200	Enhancers	Fetal Lung	lung
18	chr2:173841800-173843400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr2:173841800-173843800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr2:173842000-173843200	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr2:173842000-173844400	Enhancers	A549	lung
22	chr2:173842200-173843200	Enhancers	Primary T cells from cord blood	blood
23	chr2:173842200-173843200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
24	chr2:173842200-173843200	Enhancers	Fetal Muscle Leg	muscle
25	chr2:173842200-173843400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:173842200-173843400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:173842400-173843200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr2:173842400-173843200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:173842400-173843200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:173842400-173850800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:173842600-173843200	Strong transcription	Fetal Stomach	stomach
32	chr2:173842600-173850000	Weak transcription	Fetal Heart	heart
33	chr2:173842800-173843200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:173842800-173843200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:173842800-173843200	Enhancers	Left Ventricle	heart
36	chr2:173842800-173843400	Enhancers	Primary hematopoietic stem cells	blood
37	chr2:173842800-173843400	Enhancers	Fetal Muscle Trunk	muscle
38	chr2:173842800-173855800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:173843000-173843200	Enhancers	Brain Cingulate Gyrus	brain
40	chr2:173843000-173843200	Enhancers	Colon Smooth Muscle	Colon

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