Variant report

Variant	rs62397310
Chromosome Location	chr6:15252758-15252759
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr6:15252439-15252782	K562	blood:	n/a	n/a
2	CCNT2	chr6:15252401-15252824	K562	blood:	n/a	n/a
3	NR2F2	chr6:15251684-15252851	K562	blood:	n/a	n/a
4	TEAD4	chr6:15252085-15252878	K562	blood:	n/a	n/a
5	CEBPD	chr6:15252382-15252780	K562	blood:	n/a	n/a
6	GATA1	chr6:15252306-15253032	PBDE	blood:	n/a	n/a
7	TRIM28	chr6:15252169-15252892	K562	blood:	n/a	n/a
8	TAL1	chr6:15252351-15252807	K562	blood:	n/a	n/a
9	RCOR1	chr6:15252493-15252758	K562	blood:	n/a	n/a
10	MYC	chr6:15252483-15252831	K562	blood:	n/a	n/a
11	MAX	chr6:15252464-15252814	K562	blood:	n/a	n/a
12	ZNF384	chr6:15252302-15252778	K562	blood:	n/a	n/a
13	BACH1	chr6:15252621-15252810	K562	blood:	n/a	n/a
14	TEAD4	chr6:15252291-15252855	K562	blood:	n/a	n/a
15	POLR2A	chr6:15252462-15252786	K562	blood:	n/a	n/a
16	GATA2	chr6:15252340-15252770	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:15251586..15254356-chr6:15305390..15308009,2	K562	blood:
2	chr6:15211290..15214684-chr6:15251009..15254684,5	K562	blood:
3	chr6:15212901..15214487-chr6:15252379..15253919,2	K562	blood:
4	chr6:15251683..15253860-chr6:15353158..15355533,2	K562	blood:
5	chr6:15250579..15252953-chr6:15298506..15301463,2	K562	blood:

No data

Variant related genes	Relation type
JARID2-AS1	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11751391	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11755759	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11759040	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12193844	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17619730	0.82[ASN][1000 genomes]
rs62397308	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830594	chr6:15171158-15261296	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1027010	chr6:15201803-15425629	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv538140	chr6:15217899-15547127	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1030558	chr6:15234675-15449137	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv538141	chr6:15234675-15509163	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv538142	chr6:15243960-15404893	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15249600-15256200	Weak transcription	Lung	lung
2	chr6:15249800-15253400	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr6:15249800-15253600	Weak transcription	Fetal Stomach	stomach
4	chr6:15249800-15256200	Weak transcription	Ovary	ovary
5	chr6:15250000-15253000	Weak transcription	Brain Substantia Nigra	brain
6	chr6:15250000-15253600	Weak transcription	Fetal Muscle Leg	muscle
7	chr6:15250000-15253800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr6:15250000-15254000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr6:15250000-15254000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr6:15250000-15254000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr6:15250000-15254000	Weak transcription	Fetal Lung	lung
12	chr6:15250000-15254000	Weak transcription	HSMMtube	muscle
13	chr6:15250000-15254200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:15250000-15254400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:15250000-15255000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr6:15250000-15255600	Weak transcription	Colonic Mucosa	Colon
17	chr6:15250000-15255600	Weak transcription	Colon Smooth Muscle	Colon
18	chr6:15250000-15255600	Weak transcription	Right Atrium	heart
19	chr6:15250000-15256200	Weak transcription	Aorta	Aorta
20	chr6:15250000-15256200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr6:15250000-15256800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr6:15250000-15262000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr6:15250200-15253800	Weak transcription	Fetal Intestine Large	intestine
24	chr6:15250200-15254000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:15250200-15254200	Weak transcription	NH-A	brain
26	chr6:15250200-15254400	Enhancers	Primary T cells from cord blood	blood
27	chr6:15250200-15256000	Enhancers	Primary hematopoietic stem cells	blood
28	chr6:15250200-15259200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr6:15250400-15252800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr6:15250400-15252800	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr6:15250400-15253200	Weak transcription	Brain Angular Gyrus	brain
32	chr6:15250400-15253800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:15250400-15253800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr6:15250400-15254000	Weak transcription	NHDF-Ad	bronchial
35	chr6:15250400-15254200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:15250400-15254200	Weak transcription	Brain Germinal Matrix	brain
37	chr6:15250400-15254200	Weak transcription	HSMM	muscle
38	chr6:15250400-15254200	Weak transcription	Osteobl	bone
39	chr6:15250400-15255800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr6:15250400-15256600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr6:15250400-15257000	Enhancers	Thymus	Thymus
42	chr6:15250400-15257000	Enhancers	Dnd41	blood
43	chr6:15250400-15258600	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr6:15250400-15259200	Weak transcription	HMEC	breast
45	chr6:15250600-15255800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:15250800-15253600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:15250800-15256400	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr6:15251000-15253600	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr6:15251000-15254200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr6:15251000-15254200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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