Variant report

Variant	rs7983188
Chromosome Location	chr13:51831286-51831287
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	chr13:51828567..51831393-chr13:51834161..51836601,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs9316532	0.84[CEU][hapmap];0.81[GIH][hapmap]
rs9568561	0.86[YRI][hapmap]

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	nsv832611	chr13:51766472-51938314	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv974015	chr13:51826569-51831493	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7983188	FAM124A	cis	cerebellum	SCAN
rs7983188	RNASEH2B	cis	cerebellum	SCAN

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51816200-51836600	Weak transcription	Adipose Nuclei	Adipose
2	chr13:51816800-51836000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr13:51818800-51832800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr13:51820800-51833000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr13:51821400-51833200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr13:51821400-51833800	Weak transcription	Gastric	stomach
7	chr13:51821600-51836200	Weak transcription	Fetal Muscle Leg	muscle
8	chr13:51821600-51839000	Weak transcription	Esophagus	oesophagus
9	chr13:51821600-51845000	Weak transcription	Fetal Brain Male	brain
10	chr13:51821800-51831400	Weak transcription	Fetal Lung	lung
11	chr13:51822200-51833200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr13:51824200-51844000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr13:51824400-51836600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr13:51825000-51833000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr13:51825200-51832800	Weak transcription	Fetal Thymus	thymus
16	chr13:51825200-51833200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr13:51825400-51840600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr13:51826000-51833600	Weak transcription	Pancreas	Pancrea
19	chr13:51826400-51833000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr13:51826400-51833200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr13:51826400-51833800	Weak transcription	Lung	lung
22	chr13:51826400-51854600	Weak transcription	Aorta	Aorta
23	chr13:51826600-51832200	Weak transcription	Spleen	Spleen
24	chr13:51827000-51832600	Weak transcription	Brain Angular Gyrus	brain
25	chr13:51827400-51831400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr13:51828400-51834600	Weak transcription	Colon Smooth Muscle	Colon
27	chr13:51828600-51833000	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr13:51828800-51832800	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr13:51829400-51832800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr13:51829400-51835800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr13:51829600-51833000	Strong transcription	H9 Cell Line	embryonic stem cell
32	chr13:51829800-51831400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr13:51829800-51835800	Strong transcription	Fetal Stomach	stomach
34	chr13:51829800-51836000	Strong transcription	Fetal Brain Female	brain
35	chr13:51830000-51831400	Strong transcription	Brain Germinal Matrix	brain
36	chr13:51830000-51832800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr13:51830000-51833600	Weak transcription	Thymus	Thymus
38	chr13:51830200-51831800	Strong transcription	Brain Anterior Caudate	brain
39	chr13:51830200-51832000	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr13:51830400-51832600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr13:51830400-51832600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr13:51830400-51832800	Weak transcription	Right Ventricle	heart
43	chr13:51830400-51833600	Weak transcription	Right Atrium	heart
44	chr13:51830400-51835800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr13:51830600-51832400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr13:51830600-51833000	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr13:51830600-51833000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr13:51830600-51834800	Strong transcription	Stomach Smooth Muscle	stomach
49	chr13:51830800-51831400	Weak transcription	Left Ventricle	heart
50	chr13:51830800-51832000	Strong transcription	Brain Cingulate Gyrus	brain

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