Variant report

Variant	rs9677221
Chromosome Location	chr2:85968147-85968148
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:85964481..85966686-chr2:85966953..85969412,2	K562	blood:
2	chr2:85960025..85963728-chr2:85966554..85970726,5	MCF-7	breast:
3	chr2:85968047..85970017-chr2:85974638..85977440,3	MCF-7	breast:
4	chr2:85957921..85961748-chr2:85964446..85969197,5	MCF-7	breast:
5	chr2:85961835..85963960-chr2:85967873..85971227,3	MCF-7	breast:
6	chr2:85965048..85966910-chr2:85967176..85969800,2	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17026608	0.82[ASW][hapmap];0.87[CHD][hapmap];0.91[MEX][hapmap];0.82[ASN][1000 genomes]
rs56085927	0.82[ASN][1000 genomes]
rs6743301	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6750921	0.88[ASW][hapmap];0.90[CHD][hapmap];0.91[GIH][hapmap];0.91[MEX][hapmap];0.82[ASN][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	nsv874468	chr2:85926598-86001255	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1012593	chr2:85966323-85997189	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85960800-85968200	Weak transcription	Right Ventricle	heart
2	chr2:85962400-85968600	Enhancers	Fetal Lung	lung
3	chr2:85963200-85968400	Weak transcription	Gastric	stomach
4	chr2:85963400-85969200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:85964200-85968800	Enhancers	Brain Substantia Nigra	brain
6	chr2:85964400-85968200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:85964400-85968200	Weak transcription	Colonic Mucosa	Colon
8	chr2:85964400-85968200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr2:85964400-85968600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:85964800-85968600	Enhancers	Brain Cingulate Gyrus	brain
11	chr2:85965000-85973400	Enhancers	Fetal Muscle Leg	muscle
12	chr2:85965200-85968200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:85965400-85968200	Weak transcription	HUVEC	blood vessel
14	chr2:85965400-85968400	Weak transcription	Osteobl	bone
15	chr2:85966200-85968200	Weak transcription	HSMMtube	muscle
16	chr2:85966200-85968400	Weak transcription	Spleen	Spleen
17	chr2:85966400-85968200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:85966400-85968200	Weak transcription	Right Atrium	heart
19	chr2:85966600-85968400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:85966800-85968200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr2:85966800-85972200	Enhancers	Lung	lung
22	chr2:85967000-85968400	Enhancers	Brain Hippocampus Middle	brain
23	chr2:85967000-85968600	Enhancers	Brain Anterior Caudate	brain
24	chr2:85967000-85968600	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr2:85967200-85968200	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr2:85967200-85968400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:85967200-85969400	Enhancers	Brain Angular Gyrus	brain
28	chr2:85967200-85972400	Enhancers	Stomach Mucosa	stomach
29	chr2:85967400-85968600	Enhancers	Liver	Liver
30	chr2:85967400-85968600	Enhancers	Brain Germinal Matrix	brain
31	chr2:85967400-85968800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:85967400-85968800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:85967400-85969000	Enhancers	Aorta	Aorta
34	chr2:85967400-85969000	Enhancers	Ovary	ovary
35	chr2:85967400-85970000	Enhancers	Adipose Nuclei	Adipose
36	chr2:85967400-85971400	Enhancers	Esophagus	oesophagus
37	chr2:85967600-85968400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:85967800-85968600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr2:85967800-85968800	Enhancers	HepG2	liver
40	chr2:85967800-85969200	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr2:85967800-85969400	Enhancers	Psoas Muscle	Psoas
42	chr2:85967800-85970000	Enhancers	Colon Smooth Muscle	Colon
43	chr2:85968000-85968200	Enhancers	Fetal Kidney	kidney
44	chr2:85968000-85968200	Enhancers	Fetal Stomach	stomach
45	chr2:85968000-85968200	Enhancers	Stomach Smooth Muscle	stomach
46	chr2:85968000-85968600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:85968000-85968600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:85968000-85968600	Enhancers	Hela-S3	cervix
49	chr2:85968000-85968800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:85968000-85969000	Enhancers	HSMM	muscle

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