Variant report

Variant	rs765404
Chromosome Location	chr13:30419221-30419222
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:30419221..30420167-chr13:30498544..30499140,3	MCF-7	breast:
2	chr13:30417737..30420781-chr13:30496514..30501244,5	MCF-7	breast:
3	chr13:30418151..30421595-chr13:30683662..30686422,3	MCF-7	breast:
4	chr13:30419050..30421060-chr13:30428541..30431182,2	K562	blood:
5	chr13:30418877..30421858-chr13:30687750..30689569,3	MCF-7	breast:
6	chr13:30408592..30412430-chr13:30415846..30421304,5	MCF-7	breast:
7	chr13:30418186..30420449-chr13:30497353..30498942,2	MCF-7	breast:
8	chr13:30415961..30419397-chr13:30686617..30690558,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000224405	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1058650	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11147398	0.83[ASN][1000 genomes]
rs12872400	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1323931	0.93[ASN][1000 genomes]
rs1410110	0.84[ASN][1000 genomes]
rs2025604	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182129	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2234416	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2388246	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2388247	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2761938	0.85[ASN][1000 genomes]
rs2761939	0.86[ASN][1000 genomes]
rs2761940	0.88[ASN][1000 genomes]
rs278034	0.91[ASN][1000 genomes]
rs35541102	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4083610	0.83[ASN][1000 genomes]
rs4238128	0.83[ASN][1000 genomes]
rs4265673	0.84[ASN][1000 genomes]
rs4297554	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4769775	0.83[ASN][1000 genomes]
rs6490429	0.84[ASN][1000 genomes]
rs6490430	0.84[ASN][1000 genomes]
rs72623487	0.82[ASN][1000 genomes]
rs7320474	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7326253	0.84[ASN][1000 genomes]
rs7335148	0.84[ASN][1000 genomes]
rs7981622	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7995666	0.83[ASN][1000 genomes]
rs9314975	0.82[ASN][1000 genomes]
rs9314978	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9506226	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9506229	0.84[ASN][1000 genomes]
rs9506231	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9506233	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9508553	0.90[ASN][1000 genomes]
rs9508554	0.83[ASN][1000 genomes]
rs9508557	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9508558	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9508559	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9508560	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9508561	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9508564	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9508568	0.88[ASN][1000 genomes]
rs9550494	0.83[ASN][1000 genomes]
rs9551741	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9551744	0.82[ASN][1000 genomes]
rs9551751	0.99[ASN][1000 genomes]
rs9551753	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9578136	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9578139	0.84[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	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30376600-30420600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr13:30404400-30420000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr13:30406000-30419600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr13:30407400-30419400	Weak transcription	Brain Angular Gyrus	brain
5	chr13:30407400-30419800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr13:30407400-30419800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr13:30407400-30420800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr13:30408200-30420800	Weak transcription	Right Atrium	heart
9	chr13:30409800-30421600	Weak transcription	Left Ventricle	heart
10	chr13:30410000-30420000	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr13:30411000-30420800	Weak transcription	Ovary	ovary
12	chr13:30412000-30421000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr13:30413200-30420600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr13:30413800-30420400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr13:30414800-30420400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr13:30414800-30420800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr13:30415400-30420800	Weak transcription	Fetal Kidney	kidney
18	chr13:30415800-30419600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr13:30415800-30420000	Weak transcription	Fetal Brain Male	brain
20	chr13:30415800-30421000	Weak transcription	HMEC	breast
21	chr13:30416200-30419600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr13:30416200-30419800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr13:30416200-30420000	Weak transcription	Fetal Heart	heart
24	chr13:30416200-30420800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr13:30416200-30420800	Weak transcription	Primary B cells from peripheral blood	blood
26	chr13:30416200-30420800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr13:30416200-30420800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr13:30416200-30420800	Weak transcription	Thymus	Thymus
29	chr13:30416200-30421000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr13:30416200-30421000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr13:30416200-30421000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr13:30416400-30420400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr13:30416600-30420800	Weak transcription	Psoas Muscle	Psoas
34	chr13:30416600-30421600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr13:30416800-30419600	Weak transcription	HepG2	liver
36	chr13:30416800-30420800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr13:30417000-30420400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr13:30417000-30420800	Weak transcription	Stomach Mucosa	stomach
39	chr13:30417200-30420400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr13:30417400-30419600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr13:30417600-30420600	Weak transcription	Primary hematopoietic stem cells	blood
42	chr13:30417800-30419800	Enhancers	A549	lung
43	chr13:30417800-30420800	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr13:30417800-30425200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr13:30418000-30419600	Weak transcription	Brain Hippocampus Middle	brain
46	chr13:30418000-30420000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr13:30418200-30420000	Enhancers	Osteobl	bone
48	chr13:30418200-30420400	Enhancers	NHDF-Ad	bronchial
49	chr13:30418200-30420600	Enhancers	HSMM	muscle
50	chr13:30418400-30419400	Enhancers	HSMMtube	muscle

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