Variant report

Variant	rs1864816
Chromosome Location	chr2:134320098-134320099
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:134317975..134320308-chr2:134325605..134328573,2	MCF-7	breast:
2	chr2:134317582..134320224-chr2:134325327..134327285,2	K562	blood:

Variant related genes	Relation type
ENSG00000176771	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11675814	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11683660	0.84[YRI][hapmap]
rs11688182	1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11695364	0.82[YRI][hapmap]
rs1368096	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17816830	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1864817	1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs34522146	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34570953	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34720835	0.98[ASN][1000 genomes]
rs4954068	0.90[ASN][1000 genomes]
rs6430432	0.86[EUR][1000 genomes]
rs6710186	1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6715224	1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6723321	0.84[YRI][hapmap];0.96[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997821	chr2:133868822-134360220	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535927	chr2:133868822-134360220	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv516644	chr2:134301130-134391214	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv431713	chr2:134316522-134413604	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr2:134290800-134324200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:134310400-134324000	Weak transcription	NHEK	skin
3	chr2:134311200-134323000	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:134312000-134323600	Weak transcription	NH-A	brain
5	chr2:134312600-134321800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:134315600-134323600	Weak transcription	NHLF	lung
7	chr2:134315600-134324600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:134315800-134322400	Weak transcription	NHDF-Ad	bronchial
9	chr2:134315800-134324000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:134315800-134324400	Weak transcription	Fetal Brain Male	brain
11	chr2:134316000-134322600	Weak transcription	Fetal Heart	heart
12	chr2:134316000-134323400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:134316200-134322200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:134318600-134322600	Weak transcription	Brain Anterior Caudate	brain
15	chr2:134318600-134322800	Weak transcription	Fetal Intestine Large	intestine
16	chr2:134318600-134323000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:134318600-134323200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:134318800-134322400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:134319200-134322400	Weak transcription	Brain Substantia Nigra	brain
20	chr2:134319200-134324200	Weak transcription	Hela-S3	cervix
21	chr2:134319400-134320200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:134319400-134322000	Weak transcription	Brain Hippocampus Middle	brain
23	chr2:134319400-134322400	Weak transcription	Liver	Liver
24	chr2:134319400-134324200	Weak transcription	Stomach Mucosa	stomach
25	chr2:134320000-134320200	Enhancers	Brain Angular Gyrus	brain
26	chr2:134320000-134320200	Enhancers	Fetal Lung	lung
27	chr2:134320000-134320400	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr2:134320000-134320400	Enhancers	Fetal Stomach	stomach
29	chr2:134320000-134320600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:134320000-134325600	Weak transcription	H9 Cell Line	embryonic stem cell

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