Variant report

Variant	rs1054438
Chromosome Location	chr13:30831422-30831423
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	chr13:30830170..30831527-chr13:30908713..30909751,4	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10488670	0.84[TSI][hapmap]
rs11616667	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11619758	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73163460	1.00[ASN][1000 genomes]
rs73163464	1.00[ASN][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	nsv832572	chr13:30650005-30835256	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv899962	chr13:30831422-30863235	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30799400-30831600	Weak transcription	Right Ventricle	heart
2	chr13:30799600-30845200	Weak transcription	HMEC	breast
3	chr13:30804400-30831600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr13:30805600-30831600	Weak transcription	Left Ventricle	heart
5	chr13:30805600-30831600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr13:30805600-30841800	Weak transcription	Ovary	ovary
7	chr13:30805600-30853200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr13:30810000-30831600	Weak transcription	NHLF	lung
9	chr13:30810600-30849200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr13:30813000-30849000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr13:30820600-30831800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr13:30820600-30831800	Weak transcription	HSMMtube	muscle
13	chr13:30822400-30833600	Weak transcription	K562	blood
14	chr13:30822800-30834000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr13:30823400-30831600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr13:30823600-30831600	Weak transcription	Fetal Brain Male	brain
17	chr13:30823600-30849200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr13:30823600-30849200	Weak transcription	HSMM	muscle
19	chr13:30823800-30833800	Weak transcription	NHEK	skin
20	chr13:30823800-30849200	Weak transcription	Fetal Brain Female	brain
21	chr13:30824000-30831600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr13:30824000-30831600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr13:30824000-30831600	Weak transcription	Adipose Nuclei	Adipose
24	chr13:30824000-30831600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr13:30824000-30832000	Weak transcription	Fetal Kidney	kidney
26	chr13:30824000-30832000	Weak transcription	Osteobl	bone
27	chr13:30824000-30833400	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr13:30824000-30845200	Weak transcription	Thymus	Thymus
29	chr13:30824000-30848800	Weak transcription	Fetal Muscle Leg	muscle
30	chr13:30824200-30849200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr13:30824400-30831600	Weak transcription	Primary B cells from cord blood	blood
32	chr13:30824400-30831800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr13:30824400-30849200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr13:30824600-30833400	Weak transcription	Pancreas	Pancrea
35	chr13:30824800-30832800	Strong transcription	Dnd41	blood
36	chr13:30825000-30831800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr13:30825000-30831800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr13:30825800-30831600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr13:30825800-30831600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr13:30826800-30860400	Weak transcription	Esophagus	oesophagus
41	chr13:30827200-30831600	Weak transcription	Gastric	stomach
42	chr13:30827400-30833600	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr13:30828200-30831800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr13:30828200-30833400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr13:30828200-30837000	Weak transcription	HUVEC	blood vessel
46	chr13:30828200-30849000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr13:30828400-30831600	Weak transcription	Lung	lung
48	chr13:30828400-30848800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr13:30828600-30857600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr13:30829200-30831600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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