Variant report

Variant	rs1522280
Chromosome Location	chr7:22368678-22368679
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:22362521..22364529-chr7:22368458..22371162,2	K562	blood:
2	chr7:22366930..22368967-chr7:22370574..22372590,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10243405	0.91[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11761865	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12333620	0.93[YRI][hapmap]
rs1568572	0.92[YRI][hapmap]
rs7799625	0.86[YRI][hapmap]

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	nsv830923	chr7:22316841-22494973	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1522280	SP8	cis	cerebellum	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:22340600-22369800	Weak transcription	Gastric	stomach
2	chr7:22342200-22373200	Weak transcription	Lung	lung
3	chr7:22355000-22371800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:22358600-22369400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:22360600-22372400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:22365000-22369400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:22365000-22369400	Weak transcription	Stomach Mucosa	stomach
8	chr7:22365000-22369600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr7:22365200-22369400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:22365400-22369400	Weak transcription	Esophagus	oesophagus
11	chr7:22365400-22371800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:22367000-22369200	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr7:22367200-22369200	Enhancers	HepG2	liver
14	chr7:22367200-22371200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr7:22367800-22371600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr7:22368000-22374000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr7:22368000-22374800	Enhancers	Fetal Intestine Large	intestine
18	chr7:22368200-22369800	Weak transcription	Adipose Nuclei	Adipose
19	chr7:22368200-22370200	Enhancers	K562	blood
20	chr7:22368200-22370800	Enhancers	H9 Cell Line	embryonic stem cell
21	chr7:22368200-22371200	Enhancers	Fetal Intestine Small	intestine
22	chr7:22368200-22374600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr7:22368400-22369000	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr7:22368400-22369000	Weak transcription	Dnd41	blood
25	chr7:22368400-22370800	Enhancers	Fetal Thymus	thymus
26	chr7:22368400-22371600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr7:22368400-22371600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr7:22368400-22372200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr7:22368400-22374000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr7:22368600-22369000	Weak transcription	Pancreas	Pancrea
31	chr7:22368600-22369000	Weak transcription	Small Intestine	intestine
32	chr7:22368600-22369000	Weak transcription	Thymus	Thymus
33	chr7:22368600-22369400	Weak transcription	Spleen	Spleen
34	chr7:22368600-22369800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr7:22368600-22370800	Enhancers	Duodenum Mucosa	Duodenum

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