Variant report

Variant	rs9944042
Chromosome Location	chr14:81807866-81807867
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81807853..81809549-chr14:81809660..81812402,2	K562	blood:
2	chr14:81685715..81687789-chr14:81806873..81809588,4	MCF-7	breast:
3	chr14:81806925..81809248-chr14:81809834..81812689,2	MCF-7	breast:
4	chr14:81686333..81688856-chr14:81807631..81809599,2	K562	blood:

Variant related genes	Relation type
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs72703743	0.80[AFR][1000 genomes]
rs72703746	0.80[AFR][1000 genomes]
rs9944060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9944062	1.00[AFR][1000 genomes];1.00[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	esv3358936	chr14:81786719-81928269	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81778400-81810800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr14:81798200-81808200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:81800400-81808200	Weak transcription	Spleen	Spleen
4	chr14:81803600-81808000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr14:81803800-81832200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:81804200-81820000	Weak transcription	K562	blood
7	chr14:81804800-81809000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:81804800-81809000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:81804800-81814200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr14:81805800-81814000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr14:81806000-81814200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr14:81806600-81809400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr14:81806600-81810400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr14:81807400-81808000	Enhancers	Fetal Kidney	kidney
15	chr14:81807400-81808200	Enhancers	Adipose Nuclei	Adipose
16	chr14:81807400-81808600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:81807400-81808600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:81807400-81810400	Enhancers	Fetal Muscle Leg	muscle
19	chr14:81807600-81808200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr14:81807600-81808600	Enhancers	NHEK	skin
21	chr14:81807800-81808000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr14:81807800-81808000	Enhancers	Ovary	ovary
23	chr14:81807800-81808000	Enhancers	Psoas Muscle	Psoas
24	chr14:81807800-81808000	Enhancers	NHDF-Ad	bronchial
25	chr14:81807800-81808200	Enhancers	Stomach Mucosa	stomach
26	chr14:81807800-81808400	Enhancers	HMEC	breast
27	chr14:81807800-81809400	Enhancers	Brain Anterior Caudate	brain

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