Variant report

Variant	rs819388
Chromosome Location	chr13:30130140-30130141
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	chr13:30128754..30131140-chr13:30168189..30170872,2	MCF-7	breast:
2	chr13:30128662..30130229-chr13:30134308..30136024,2	K562	blood:

Variant related genes	Relation type
ENSG00000139514	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10454589	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10454590	0.83[CEU][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12868663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17602182	1.00[ASN][1000 genomes]
rs2669038	0.91[CEU][hapmap];0.86[YRI][hapmap]
rs3011607	0.80[AFR][1000 genomes]
rs34831702	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs478085	1.00[ASW][hapmap];0.93[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap]
rs555913	0.91[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap]
rs7328329	0.91[CEU][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7998704	0.91[CEU][hapmap]
rs9314960	0.91[CEU][hapmap]
rs9314962	0.91[CEU][hapmap]
rs9578106	0.82[CEU][hapmap];0.83[YRI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9578107	0.80[CEU][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9579383	0.92[GIH][hapmap]
rs9579384	0.93[GIH][hapmap]
rs9579386	0.93[GIH][hapmap]
rs9579388	0.86[GIH][hapmap]
rs9579389	0.93[GIH][hapmap]
rs9579390	0.93[GIH][hapmap]
rs9579393	0.93[GIH][hapmap]
rs9579398	0.81[ASW][hapmap];0.83[CEU][hapmap];0.93[GIH][hapmap];0.86[YRI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9579399	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9579400	0.91[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9579401	0.91[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9579402	0.91[CEU][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9579403	1.00[EUR][1000 genomes]
rs9579404	1.00[EUR][1000 genomes]
rs9579406	0.82[CEU][hapmap]
rs9579407	0.91[CEU][hapmap]
rs9579408	0.91[CEU][hapmap]
rs9579410	0.91[CEU][hapmap];0.86[GIH][hapmap];1.00[TSI][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	nsv979	chr13:30122254-30167821	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30092200-30133000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr13:30097200-30138400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr13:30103800-30137200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:30104200-30135400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr13:30105200-30136800	Weak transcription	Brain Germinal Matrix	brain
6	chr13:30113200-30141600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr13:30113800-30136200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr13:30122600-30131600	Weak transcription	Small Intestine	intestine
9	chr13:30123000-30138600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr13:30123600-30136200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr13:30125000-30137200	Weak transcription	Brain Anterior Caudate	brain
12	chr13:30125000-30147400	Weak transcription	A549	lung
13	chr13:30125800-30130800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr13:30125800-30136600	Weak transcription	Brain Hippocampus Middle	brain
15	chr13:30125800-30142200	Weak transcription	K562	blood
16	chr13:30125800-30143200	Weak transcription	Gastric	stomach
17	chr13:30126000-30135800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr13:30126000-30137000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr13:30126000-30138400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr13:30126000-30161400	Weak transcription	Primary B cells from cord blood	blood
21	chr13:30126200-30130600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr13:30126200-30137200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr13:30126200-30147200	Weak transcription	Spleen	Spleen
24	chr13:30126600-30136000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr13:30126600-30136000	Weak transcription	HUVEC	blood vessel
26	chr13:30126800-30135200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr13:30127400-30142200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr13:30127600-30135400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr13:30127600-30135800	Weak transcription	HSMM	muscle
30	chr13:30127600-30137200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr13:30127600-30137800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr13:30127600-30144000	Weak transcription	Fetal Intestine Small	intestine
33	chr13:30127600-30146200	Weak transcription	Right Ventricle	heart
34	chr13:30127600-30151400	Weak transcription	Aorta	Aorta
35	chr13:30127600-30156400	Weak transcription	Lung	lung
36	chr13:30127800-30130600	Weak transcription	NH-A	brain
37	chr13:30127800-30131000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr13:30127800-30131000	Weak transcription	Fetal Brain Female	brain
39	chr13:30127800-30135800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr13:30127800-30135800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr13:30127800-30136200	Weak transcription	Ovary	ovary
42	chr13:30127800-30136800	Weak transcription	Brain Angular Gyrus	brain
43	chr13:30127800-30137200	Weak transcription	Pancreas	Pancrea
44	chr13:30127800-30137800	Weak transcription	Brain Substantia Nigra	brain
45	chr13:30127800-30137800	Weak transcription	Colon Smooth Muscle	Colon
46	chr13:30127800-30143200	Weak transcription	Fetal Thymus	thymus
47	chr13:30127800-30147400	Weak transcription	Fetal Intestine Large	intestine
48	chr13:30127800-30147600	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr13:30128000-30130800	Weak transcription	NHDF-Ad	bronchial
50	chr13:30128000-30134600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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