Variant report

Variant	rs7745361
Chromosome Location	chr6:57252736-57252737
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:57252680-57252830	HAc	cerebellar:	n/a	n/a
2	POLR2A	chr6:57252658-57252858	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
MIR548U	TF binding region

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12333000	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3800007	0.84[EUR][1000 genomes]
rs56684663	0.82[EUR][1000 genomes]
rs9296875	1.00[CEU][hapmap]
rs9464455	1.00[CEU][hapmap]
rs9464456	1.00[CEU][hapmap]
rs9475878	1.00[CEU][hapmap]
rs9475882	1.00[CEU][hapmap]
rs9475887	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs9475901	0.80[EUR][1000 genomes]
rs9475910	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9475938	1.00[CEU][hapmap];0.94[YRI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9475939	1.00[CEU][hapmap];0.93[YRI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9475941	1.00[ASN][1000 genomes]
rs9475972	1.00[CEU][hapmap];0.94[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2758056	chr6:57184541-57562604	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	esv2759432	chr6:57184541-57562604	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1034139	chr6:57192993-57253423	ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1022055	chr6:57192993-57353692	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1015853	chr6:57205882-57528899	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	nsv538231	chr6:57205882-57528899	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1026876	chr6:57205882-57911812	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
9	nsv538232	chr6:57205882-57911812	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
10	nsv1017144	chr6:57205882-58055059	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
11	nsv538233	chr6:57205882-58055059	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
12	nsv931006	chr6:57205883-58060394	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
13	nsv603191	chr6:57205920-57381883	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
14	nsv970125	chr6:57205998-57285497	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
15	esv2453782	chr6:57206998-57575589	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
16	nsv1024888	chr6:57208043-57541463	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
17	nsv1020263	chr6:57208043-57562028	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
18	nsv538234	chr6:57208043-57562028	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
19	nsv1025413	chr6:57208043-57617947	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
20	nsv538235	chr6:57208043-57617947	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
21	nsv1024375	chr6:57208043-58002217	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
22	nsv603192	chr6:57218436-57381883	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
23	nsv603193	chr6:57218436-58075480	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
24	nsv470820	chr6:57224119-58075480	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
25	nsv885914	chr6:57224854-57364314	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
26	nsv1027292	chr6:57226182-57560129	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
27	nsv1023626	chr6:57226182-57617208	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
28	nsv1031558	chr6:57226182-57631396	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
29	nsv1024902	chr6:57226182-57768689	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
30	nsv1030993	chr6:57236918-57631396	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
31	nsv528053	chr6:57249977-57288930	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
32	nsv818418	chr6:57249977-57288930	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
33	nsv885915	chr6:57249977-57422878	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
34	nsv969305	chr6:57251382-57254875	Weak transcription Enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:57238400-57261000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr6:57241200-57254800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:57241200-57262600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:57242800-57259800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:57243200-57254200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:57243600-57254800	Weak transcription	NH-A	brain
7	chr6:57244400-57259200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr6:57245200-57257000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr6:57245400-57253200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr6:57245400-57253600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:57245400-57254600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr6:57245600-57253600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr6:57245600-57254800	Weak transcription	Adipose Nuclei	Adipose
14	chr6:57245600-57256200	Weak transcription	Fetal Intestine Large	intestine
15	chr6:57245600-57261200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:57245800-57253200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr6:57245800-57254000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr6:57245800-57254800	Weak transcription	Fetal Thymus	thymus
19	chr6:57245800-57256000	Weak transcription	Fetal Brain Male	brain
20	chr6:57246000-57253600	Weak transcription	GM12878-XiMat	blood
21	chr6:57246000-57254000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:57246000-57255200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr6:57246000-57255400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:57246000-57255400	Weak transcription	Fetal Kidney	kidney
25	chr6:57247000-57254000	Weak transcription	NHLF	lung
26	chr6:57247000-57261200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:57247600-57255200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr6:57247600-57258000	Weak transcription	Primary B cells from cord blood	blood
29	chr6:57247600-57259800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:57248000-57258200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr6:57249000-57257600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:57249200-57254200	Weak transcription	Osteobl	bone
33	chr6:57249200-57254800	Weak transcription	Aorta	Aorta
34	chr6:57249200-57261800	Weak transcription	HSMM	muscle
35	chr6:57249400-57253600	Weak transcription	Ovary	ovary
36	chr6:57249400-57256000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr6:57249600-57252800	Weak transcription	Primary T cells from cord blood	blood
38	chr6:57249600-57252800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:57249600-57252800	Weak transcription	NHDF-Ad	bronchial
40	chr6:57249600-57254800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr6:57249600-57254800	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr6:57249600-57255200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr6:57250800-57259000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr6:57251200-57262800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr6:57251600-57262800	Weak transcription	Thymus	Thymus
46	chr6:57252000-57262800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr6:57252200-57257400	Weak transcription	Dnd41	blood
48	chr6:57252600-57253000	Enhancers	Muscle Satellite Cultured Cells	--

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