Variant report

Variant	rs13394310
Chromosome Location	chr2:73305543-73305544
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:73219860..73220941-chr2:73304787..73305824,5	MCF-7	breast:
2	chr2:73220194..73220766-chr2:73304785..73305683,2	MCF-7	breast:
3	chr2:73302809..73306737-chr2:73311058..73314272,4	K562	blood:
4	chr2:73297623..73300370-chr2:73303769..73308752,6	MCF-7	breast:
5	chr2:73298507..73301632-chr2:73302873..73306092,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144040	Chromatin interaction
ENSG00000135631	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10186042	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10201147	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13392698	1.00[AMR][1000 genomes]
rs13403043	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13406318	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13406847	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13414995	1.00[AMR][1000 genomes]
rs13428265	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58219425	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59641381	1.00[AMR][1000 genomes]
rs9808477	0.87[AFR][1000 genomes];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	nsv1002295	chr2:73216155-73350391	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1006801	chr2:73305056-73431711	Weak transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73299200-73314800	Weak transcription	Small Intestine	intestine
2	chr2:73299400-73306800	Weak transcription	Fetal Brain Male	brain
3	chr2:73299400-73314800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr2:73299400-73314800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:73299400-73318200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr2:73299400-73318400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:73299600-73305600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:73299600-73305600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:73299600-73306400	Weak transcription	Brain Anterior Caudate	brain
10	chr2:73299600-73306600	Weak transcription	Brain Angular Gyrus	brain
11	chr2:73299600-73306600	Weak transcription	Left Ventricle	heart
12	chr2:73299600-73307600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr2:73299600-73307800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:73299600-73312600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:73299600-73314200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr2:73299600-73314600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:73299600-73314800	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr2:73299600-73315400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr2:73299600-73316000	Weak transcription	NHDF-Ad	bronchial
20	chr2:73299600-73319400	Weak transcription	K562	blood
21	chr2:73299800-73307600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr2:73299800-73308000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:73299800-73311200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr2:73299800-73314800	Weak transcription	Brain Substantia Nigra	brain
25	chr2:73299800-73314800	Weak transcription	HSMM	muscle
26	chr2:73300000-73307800	Strong transcription	Placenta	Placenta
27	chr2:73300000-73308800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:73300000-73312200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:73300000-73319200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr2:73300200-73306200	Weak transcription	HUVEC	blood vessel
31	chr2:73300200-73308000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:73300200-73312000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr2:73300200-73314200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr2:73300400-73310800	Weak transcription	Liver	Liver
35	chr2:73300600-73308000	Strong transcription	NHEK	skin
36	chr2:73300600-73308400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr2:73300600-73310400	Strong transcription	Fetal Intestine Small	intestine
38	chr2:73300600-73312600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:73300600-73313000	Strong transcription	Fetal Stomach	stomach
40	chr2:73300800-73311800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr2:73301400-73305600	Strong transcription	NH-A	brain
42	chr2:73301400-73308200	Strong transcription	NHLF	lung
43	chr2:73301800-73306800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr2:73302000-73308000	Strong transcription	HepG2	liver
45	chr2:73302400-73305800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr2:73302600-73306000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:73302600-73307800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr2:73302600-73312600	Weak transcription	Colon Smooth Muscle	Colon
49	chr2:73302600-73316400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:73302800-73306600	Weak transcription	Adipose Nuclei	Adipose

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