Variant report

Variant	rs67897621
Chromosome Location	chr2:86786795-86786796
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	chr2:86785055..86787546-chr2:86849143..86851076,2	MCF-7	breast:
2	chr2:86782900..86787446-chr2:86787850..86792854,12	K562	blood:

Variant related genes	Relation type
ENSG00000239305	Chromatin interaction
ENSG00000228363	Chromatin interaction
ENSG00000249884	Chromatin interaction
ENSG00000115561	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11127039	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11687775	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11883727	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11890049	0.91[EUR][1000 genomes]
rs11890173	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11894098	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11897930	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35476005	1.00[ASN][1000 genomes]
rs55647305	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56184319	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6755535	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67847575	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72930333	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72932325	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7559738	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7598175	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7600791	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][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	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86737400-86788400	Weak transcription	Brain Hippocampus Middle	brain
2	chr2:86753800-86788400	Weak transcription	HSMM	muscle
3	chr2:86756000-86788400	Weak transcription	Brain Anterior Caudate	brain
4	chr2:86756600-86789200	Weak transcription	Aorta	Aorta
5	chr2:86761200-86788600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:86761200-86788800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:86771200-86788400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:86774200-86788200	Weak transcription	Adipose Nuclei	Adipose
9	chr2:86774400-86788800	Weak transcription	Fetal Lung	lung
10	chr2:86774600-86788200	Weak transcription	Hela-S3	cervix
11	chr2:86775200-86788200	Weak transcription	K562	blood
12	chr2:86775200-86788800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr2:86776800-86788800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr2:86777000-86787800	Weak transcription	Ovary	ovary
15	chr2:86777000-86788000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:86777400-86789200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:86777400-86789600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:86777600-86788000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr2:86777600-86788200	Weak transcription	Liver	Liver
20	chr2:86777600-86789200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:86777600-86789400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:86777600-86789400	Weak transcription	Lung	lung
23	chr2:86777800-86787800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr2:86777800-86788400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:86777800-86789400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:86778200-86789000	Weak transcription	NHLF	lung
27	chr2:86779400-86788800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:86779400-86789400	Weak transcription	Placenta	Placenta
29	chr2:86780000-86788400	Weak transcription	HMEC	breast
30	chr2:86780200-86789000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:86780600-86787400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr2:86780600-86788600	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr2:86780800-86789400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:86780800-86789600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr2:86781200-86788800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr2:86781400-86788000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr2:86782000-86788400	Weak transcription	Fetal Kidney	kidney
38	chr2:86782400-86786800	Strong transcription	Primary B cells from cord blood	blood
39	chr2:86782400-86788400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr2:86782600-86788200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:86782600-86789000	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr2:86782800-86788600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:86783000-86788200	Weak transcription	Dnd41	blood
44	chr2:86783000-86789200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr2:86783200-86789400	Weak transcription	Fetal Thymus	thymus
46	chr2:86783400-86786800	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr2:86783600-86786800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr2:86783600-86787000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr2:86784000-86787000	Weak transcription	Fetal Stomach	stomach
50	chr2:86784000-86787400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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