Variant report

Variant	rs2182129
Chromosome Location	chr13:30420309-30420310
allele	A/C
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:30417737..30420781-chr13:30496514..30501244,5	MCF-7	breast:
2	chr13:30418151..30421595-chr13:30683662..30686422,3	MCF-7	breast:
3	chr13:30419050..30421060-chr13:30428541..30431182,2	K562	blood:
4	chr13:30419316..30420699-chr13:30498135..30498967,5	MCF-7	breast:
5	chr13:30419919..30422881-chr13:30423203..30424987,3	MCF-7	breast:
6	chr13:30418877..30421858-chr13:30687750..30689569,3	MCF-7	breast:
7	chr13:30408592..30412430-chr13:30415846..30421304,5	MCF-7	breast:
8	chr13:30419487..30420690-chr13:30686853..30688126,3	MCF-7	breast:
9	chr13:30418186..30420449-chr13:30497353..30498942,2	MCF-7	breast:
10	chr13:30419645..30422998-chr13:30423356..30426186,4	K562	blood:
11	chr13:30419958..30421737-chr13:30423356..30425761,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000122042	Chromatin interaction
ENSG00000224405	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1058650	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11147398	0.83[ASN][1000 genomes]
rs12872400	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1323931	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1410110	0.81[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs2025604	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2234416	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2388246	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2388247	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2761938	0.91[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs2761939	0.86[ASN][1000 genomes]
rs2761940	0.88[ASN][1000 genomes]
rs278034	0.91[ASN][1000 genomes]
rs278049	0.83[CHB][hapmap]
rs35541102	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4083610	0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs4238128	0.87[CHB][hapmap];0.80[JPT][hapmap];0.83[ASN][1000 genomes]
rs4265673	0.87[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs4297554	0.87[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	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7326253	0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs7330356	0.82[CHB][hapmap]
rs7335148	0.86[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs765404	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7981622	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7995666	0.87[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs9314975	0.82[ASN][1000 genomes]
rs9314978	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9506226	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9506229	0.87[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs9506231	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9506233	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9508553	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9508554	0.81[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs9508557	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9508558	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9508559	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9508560	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9508561	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9508564	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9508568	0.88[ASN][1000 genomes]
rs9550494	0.85[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs9551741	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9551744	0.87[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs9551751	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9551753	0.94[CEU][hapmap];0.90[CHB][hapmap];0.80[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9578136	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9578139	0.87[CHB][hapmap];0.85[JPT][hapmap];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:99 , 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	chr13:30407400-30420800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr13:30408200-30420800	Weak transcription	Right Atrium	heart
4	chr13:30409800-30421600	Weak transcription	Left Ventricle	heart
5	chr13:30411000-30420800	Weak transcription	Ovary	ovary
6	chr13:30412000-30421000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr13:30413200-30420600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr13:30413800-30420400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr13:30414800-30420400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr13:30414800-30420800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr13:30415400-30420800	Weak transcription	Fetal Kidney	kidney
12	chr13:30415800-30421000	Weak transcription	HMEC	breast
13	chr13:30416200-30420800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr13:30416200-30420800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr13:30416200-30420800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr13:30416200-30420800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr13:30416200-30420800	Weak transcription	Thymus	Thymus
18	chr13:30416200-30421000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr13:30416200-30421000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr13:30416200-30421000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr13:30416400-30420400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr13:30416600-30420800	Weak transcription	Psoas Muscle	Psoas
23	chr13:30416600-30421600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr13:30416800-30420800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr13:30417000-30420400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr13:30417000-30420800	Weak transcription	Stomach Mucosa	stomach
27	chr13:30417200-30420400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr13:30417600-30420600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr13:30417800-30420800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr13:30417800-30425200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr13:30418200-30420400	Enhancers	NHDF-Ad	bronchial
32	chr13:30418200-30420600	Enhancers	HSMM	muscle
33	chr13:30418400-30420400	Weak transcription	NHLF	lung
34	chr13:30418400-30420600	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr13:30418400-30420800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr13:30418400-30420800	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr13:30418600-30420600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr13:30418600-30420800	Enhancers	Duodenum Mucosa	Duodenum
39	chr13:30418600-30420800	Enhancers	NHEK	skin
40	chr13:30418600-30423400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr13:30418600-30425000	Active TSS	GM12878-XiMat	blood
42	chr13:30419000-30420800	Enhancers	Liver	Liver
43	chr13:30419000-30421000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr13:30419200-30420400	Weak transcription	Hela-S3	cervix
45	chr13:30419200-30420600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr13:30419200-30420600	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr13:30419200-30420600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr13:30419200-30420600	Enhancers	Brain Substantia Nigra	brain
49	chr13:30419200-30420800	Enhancers	Primary B cells from cord blood	blood
50	chr13:30419200-30420800	Enhancers	Colon Smooth Muscle	Colon

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