Variant report

Variant	rs4400984
Chromosome Location	chr14:81236579-81236580
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81232663..81234476-chr14:81236188..81238113,2	K562	blood:
2	chr14:81236424..81238207-chr14:81245492..81248423,2	MCF-7	breast:
3	chr14:81230364..81233121-chr14:81236333..81239147,3	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10083541	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10134279	1.00[AMR][1000 genomes]
rs10137577	1.00[AMR][1000 genomes]
rs10140767	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10143950	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10146558	1.00[AMR][1000 genomes]
rs10146613	1.00[AMR][1000 genomes]
rs10147253	1.00[AMR][1000 genomes]
rs10147896	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10148198	1.00[AMR][1000 genomes]
rs10149913	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10151668	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10162496	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10220494	1.00[AMR][1000 genomes]
rs10220567	1.00[AMR][1000 genomes]
rs10220635	1.00[AMR][1000 genomes]
rs12323448	1.00[AMR][1000 genomes]
rs13379189	1.00[AMR][1000 genomes]
rs17110881	1.00[AMR][1000 genomes]
rs17111244	1.00[AMR][1000 genomes]
rs28376824	1.00[AMR][1000 genomes]
rs28452095	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28464324	1.00[AMR][1000 genomes]
rs28519983	1.00[AMR][1000 genomes]
rs28603151	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28620988	1.00[AMR][1000 genomes]
rs28695726	1.00[AMR][1000 genomes]
rs28753378	1.00[AMR][1000 genomes]
rs28825072	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28887590	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55854538	1.00[AMR][1000 genomes]
rs57574075	1.00[AMR][1000 genomes]
rs58018311	1.00[AMR][1000 genomes]
rs716483	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74066003	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	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1035295	chr14:81180999-81236636	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81192800-81305400	Weak transcription	Primary B cells from cord blood	blood
2	chr14:81199800-81248600	Weak transcription	Primary T cells from cord blood	blood
3	chr14:81205000-81261000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr14:81207600-81265400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr14:81208400-81240400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr14:81209600-81248200	Weak transcription	HSMM	muscle
7	chr14:81221000-81238600	Weak transcription	Ovary	ovary
8	chr14:81221400-81238600	Weak transcription	Thymus	Thymus
9	chr14:81222400-81260000	Weak transcription	Fetal Brain Female	brain
10	chr14:81223200-81250800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr14:81227000-81260800	Weak transcription	NH-A	brain
12	chr14:81227400-81258000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr14:81228200-81240800	Weak transcription	Fetal Thymus	thymus
14	chr14:81229400-81238800	Weak transcription	Left Ventricle	heart
15	chr14:81231200-81251400	Weak transcription	A549	lung
16	chr14:81232000-81251200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:81232400-81260800	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr14:81233600-81246200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr14:81235000-81238600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr14:81235200-81253600	Weak transcription	HMEC	breast
21	chr14:81235400-81266600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr14:81236200-81236600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
23	chr14:81236200-81236600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr14:81236200-81236800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr14:81236200-81236800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:81236200-81237200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr14:81236200-81237800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr14:81236200-81237800	Enhancers	HUVEC	blood vessel
29	chr14:81236200-81238000	Enhancers	NHDF-Ad	bronchial
30	chr14:81236400-81236600	ZNF genes & repeats	Dnd41	blood
31	chr14:81236400-81236600	Weak transcription	NHLF	lung
32	chr14:81236400-81237400	Enhancers	NHEK	skin

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