Variant report

Variant	rs28622152
Chromosome Location	chr7:117430553-117430554
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	7:117429273-117432820..7:117432820-117434816	H1-hESC	embryonic stem cell:	embryo
2	chr7:117414449..117416611-chr7:117429375..117431267,2	K562	blood:
3	chr7:117425973..117428356-chr7:117429083..117431485,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ASZ1-4	chr7:117430456-117430580	NONHSAT122953

Variant related genes	Relation type
ENSG00000077063	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10233110	1.00[EUR][1000 genomes]
rs10257581	0.91[EUR][1000 genomes]
rs10269788	0.97[EUR][1000 genomes]
rs12530721	0.82[EUR][1000 genomes]
rs28414508	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28441380	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34605897	0.94[EUR][1000 genomes]
rs34643488	0.94[EUR][1000 genomes]
rs34787450	0.94[EUR][1000 genomes]
rs35018341	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35683365	0.94[EUR][1000 genomes]
rs36073009	0.94[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869971	chr7:117420583-118274149	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117356200-117431400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr7:117375200-117431600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:117396400-117450200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:117396600-117431200	Weak transcription	Aorta	Aorta
5	chr7:117397000-117431200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:117397000-117431200	Weak transcription	Fetal Intestine Small	intestine
7	chr7:117397000-117431600	Weak transcription	Ovary	ovary
8	chr7:117397200-117431200	Weak transcription	Pancreas	Pancrea
9	chr7:117398600-117431200	Weak transcription	Fetal Stomach	stomach
10	chr7:117400800-117431200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr7:117401400-117434000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr7:117409800-117433400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:117412200-117431200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:117412200-117431200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr7:117412400-117431200	Weak transcription	Esophagus	oesophagus
16	chr7:117417800-117431200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr7:117417800-117431200	Weak transcription	Brain Germinal Matrix	brain
18	chr7:117417800-117431600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr7:117418000-117431200	Weak transcription	Adipose Nuclei	Adipose
20	chr7:117418000-117431200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr7:117418000-117431400	Weak transcription	Fetal Lung	lung
22	chr7:117421400-117431000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr7:117421400-117444400	Weak transcription	Fetal Heart	heart
24	chr7:117421600-117431200	Weak transcription	Brain Hippocampus Middle	brain
25	chr7:117421800-117431000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr7:117421800-117431200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:117422000-117431000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr7:117422000-117431200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:117422000-117431200	Weak transcription	Brain Anterior Caudate	brain
30	chr7:117422400-117431800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:117423200-117431000	Weak transcription	Fetal Brain Female	brain
32	chr7:117424400-117431200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr7:117424600-117431200	Weak transcription	NHLF	lung
34	chr7:117424600-117431400	Weak transcription	Fetal Brain Male	brain
35	chr7:117424600-117433600	Weak transcription	Gastric	stomach
36	chr7:117425800-117431400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr7:117426000-117431200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr7:117428400-117448600	Weak transcription	Fetal Kidney	kidney
39	chr7:117428600-117431600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr7:117428800-117431200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr7:117429200-117431400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr7:117429400-117433600	Weak transcription	Right Atrium	heart
43	chr7:117429600-117431200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:117429800-117432000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr7:117430000-117431600	Weak transcription	Brain Substantia Nigra	brain
46	chr7:117430200-117433600	Weak transcription	Spleen	Spleen
47	chr7:117430400-117431000	Weak transcription	Brain Angular Gyrus	brain
48	chr7:117430400-117431800	Enhancers	K562	blood
49	chr7:117430400-117432600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr7:117430400-117432600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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