Variant report

Variant	rs981888
Chromosome Location	chr7:117391428-117391429
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	7:116651084-116657331..7:117390750-117397080	Hela-S3	cervix:
2	chr7:117390803..117391431-chr7:118815895..118816706,2	MCF-7	breast:
3	7:116849860-116864942..7:117390750-117397080	Hela-S3	cervix:
4	chr7:117389243..117392160-chr7:117392467..117394936,2	K562	blood:
5	chr7:117390818..117391522-chr7:117589429..117589982,2	MCF-7	breast:
6	7:116604327-116608063..7:117390750-117397080	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000228368	Chromatin interaction
ENSG00000004866	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17140391	0.81[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28377301	1.00[EUR][1000 genomes]
rs33999370	1.00[AMR][1000 genomes]
rs34312798	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34329593	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34337653	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34976943	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35189997	1.00[AMR][1000 genomes]
rs35258964	1.00[AMR][1000 genomes]
rs35538076	1.00[AMR][1000 genomes]
rs35690931	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36059768	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58931851	0.97[AFR][1000 genomes]
rs6945467	1.00[EUR][1000 genomes]
rs6954703	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6961987	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73481627	1.00[EUR][1000 genomes]
rs73481632	1.00[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	nsv464695	chr7:117342771-117393516	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv608258	chr7:117342771-117393516	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117354800-117417200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr7:117356200-117431400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr7:117358400-117398800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:117359200-117402600	Weak transcription	Spleen	Spleen
5	chr7:117362600-117394000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:117363200-117401000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr7:117365600-117407000	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:117371800-117396000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:117372000-117395800	Weak transcription	Fetal Intestine Small	intestine
10	chr7:117374400-117393800	Weak transcription	Fetal Heart	heart
11	chr7:117375000-117410800	Weak transcription	Left Ventricle	heart
12	chr7:117375200-117395800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:117375200-117395800	Weak transcription	Pancreas	Pancrea
14	chr7:117375200-117431600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:117375400-117396000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:117375400-117402600	Weak transcription	Esophagus	oesophagus
17	chr7:117375800-117406800	Weak transcription	Fetal Kidney	kidney
18	chr7:117379200-117395800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr7:117379600-117404000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:117381400-117395800	Weak transcription	Aorta	Aorta
21	chr7:117382600-117395200	Weak transcription	NHLF	lung
22	chr7:117383200-117395800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:117385000-117396000	Weak transcription	Ovary	ovary
24	chr7:117385400-117394600	Weak transcription	Brain Germinal Matrix	brain
25	chr7:117385400-117395000	Weak transcription	Fetal Stomach	stomach
26	chr7:117385400-117410600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr7:117385600-117395200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr7:117386000-117394800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr7:117386200-117394200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr7:117386200-117394600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr7:117386800-117397600	Weak transcription	Fetal Brain Male	brain
32	chr7:117387400-117393600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:117387400-117410400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr7:117388000-117395000	Weak transcription	Fetal Lung	lung
35	chr7:117388000-117395800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:117389600-117392200	Enhancers	Brain Hippocampus Middle	brain
37	chr7:117389600-117393400	Weak transcription	Fetal Brain Female	brain
38	chr7:117389600-117394800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr7:117389600-117395000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr7:117390200-117392200	Enhancers	Brain Angular Gyrus	brain
41	chr7:117390200-117392200	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr7:117390400-117392000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:117390400-117392400	Enhancers	Brain Cingulate Gyrus	brain
44	chr7:117390600-117392400	Enhancers	Brain Anterior Caudate	brain
45	chr7:117391000-117392400	Enhancers	Brain Substantia Nigra	brain
46	chr7:117391200-117392200	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr7:117391200-117413400	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr7:117391400-117394000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr7:117391400-117395000	Weak transcription	Adipose Nuclei	Adipose
50	chr7:117391400-117395800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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