Variant report

Variant	rs4972522
Chromosome Location	chr2:173841037-173841038
allele	A/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	chr2:173839361..173841132-chr2:173850021..173852196,2	K562	blood:
3	chr2:173840817..173843158-chr2:173885041..173887379,4	MCF-7	breast:
4	chr2:173840982..173843855-chr2:173843865..173846524,2	MCF-7	breast:
5	chr2:173838607..173842976-chr2:173848438..173851310,4	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10497387	1.00[ASN][1000 genomes]
rs10754979	0.83[EUR][1000 genomes]
rs12465032	0.83[EUR][1000 genomes]
rs12619862	0.96[ASN][1000 genomes]
rs12986507	0.83[EUR][1000 genomes]
rs13023047	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1974922	0.83[EUR][1000 genomes]
rs3769245	1.00[ASN][1000 genomes]
rs4972519	0.83[EUR][1000 genomes]
rs62174645	0.91[ASN][1000 genomes]
rs6734119	0.95[AFR][1000 genomes]
rs745288	0.89[EUR][1000 genomes];0.91[ASN][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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173829000-173842800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr2:173832200-173850000	Weak transcription	Brain Anterior Caudate	brain
3	chr2:173832600-173850200	Weak transcription	Brain Hippocampus Middle	brain
4	chr2:173833800-173842200	Weak transcription	Fetal Heart	heart
5	chr2:173833800-173845000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:173833800-173855600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:173833800-173859000	Weak transcription	Fetal Intestine Small	intestine
8	chr2:173833800-173860800	Weak transcription	Right Ventricle	heart
9	chr2:173834000-173841800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:173834200-173841400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:173834200-173842200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:173834200-173855800	Weak transcription	Brain Angular Gyrus	brain
13	chr2:173835800-173842800	Weak transcription	Left Ventricle	heart
14	chr2:173835800-173886800	Weak transcription	Lung	lung
15	chr2:173836200-173841800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:173836200-173842200	Weak transcription	Fetal Stomach	stomach
17	chr2:173837400-173842400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:173837600-173841800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr2:173837600-173843600	Weak transcription	Liver	Liver
20	chr2:173840400-173843600	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr2:173840600-173843400	Enhancers	Thymus	Thymus
22	chr2:173840800-173841200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:173840800-173841200	Enhancers	Primary T cells from cord blood	blood
24	chr2:173840800-173841200	Enhancers	Primary hematopoietic stem cells	blood
25	chr2:173840800-173841200	Enhancers	Fetal Lung	lung
26	chr2:173840800-173843200	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr2:173840800-173843400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:173840800-173843400	Enhancers	Fetal Thymus	thymus
29	chr2:173841000-173842000	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr2:173841000-173842200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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