Variant report

Variant	rs6845398
Chromosome Location	chr4:48710712-48710713
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10433725	1.00[AMR][1000 genomes]
rs10938540	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12650202	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13128989	0.85[AFR][1000 genomes]
rs1546653	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1949423	1.00[AMR][1000 genomes]
rs2056197	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2056200	1.00[AMR][1000 genomes]
rs2138868	1.00[AMR][1000 genomes]
rs2354313	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2354315	1.00[AMR][1000 genomes]
rs7436127	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7667909	1.00[AMR][1000 genomes]
rs7690793	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs938789	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002674	chr4:48507608-49032909	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv537087	chr4:48507608-49032909	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1010923	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv537088	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1013762	chr4:48580484-49032909	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv537089	chr4:48580484-49032909	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv999203	chr4:48645887-48735512	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1802666	chr4:48646594-48721327	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1013914	chr4:48652784-48728934	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv537090	chr4:48652784-48728934	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	esv1796692	chr4:48686817-48726266	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	esv1792683	chr4:48686817-48764009	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	esv1795181	chr4:48686817-48764009	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	esv1793455	chr4:48686817-48859142	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv1010381	chr4:48701525-49309842	Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48621200-48729400	Weak transcription	Thymus	Thymus
2	chr4:48695400-48711200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr4:48700200-48730800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:48700400-48713200	Weak transcription	Placenta	Placenta
5	chr4:48700400-48718800	Weak transcription	Fetal Muscle Leg	muscle
6	chr4:48700600-48719600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:48700800-48712200	Weak transcription	Brain Germinal Matrix	brain
8	chr4:48700800-48715600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr4:48701000-48711200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr4:48701000-48712000	Weak transcription	Right Ventricle	heart
11	chr4:48701000-48712200	Weak transcription	Fetal Heart	heart
12	chr4:48701000-48713000	Weak transcription	Fetal Brain Male	brain
13	chr4:48701000-48715200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr4:48701000-48729600	Weak transcription	Aorta	Aorta
15	chr4:48701400-48713600	Weak transcription	Fetal Brain Female	brain
16	chr4:48701800-48710800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr4:48701800-48715400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr4:48701800-48715800	Weak transcription	Fetal Kidney	kidney
19	chr4:48701800-48724600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr4:48702200-48716200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr4:48702400-48711200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr4:48702600-48710800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr4:48702600-48711200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr4:48702600-48717400	Weak transcription	Colon Smooth Muscle	Colon
25	chr4:48702800-48710800	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr4:48702800-48711200	Weak transcription	GM12878-XiMat	blood
27	chr4:48702800-48712400	Weak transcription	HUVEC	blood vessel
28	chr4:48702800-48720800	Weak transcription	Small Intestine	intestine
29	chr4:48703000-48711200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr4:48703200-48711400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:48703400-48714800	Weak transcription	NH-A	brain
32	chr4:48703400-48722800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr4:48703600-48711200	Weak transcription	NHDF-Ad	bronchial
34	chr4:48703800-48712600	Weak transcription	Osteobl	bone
35	chr4:48704000-48711400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr4:48704000-48711800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr4:48704000-48712200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr4:48704000-48712600	Weak transcription	Fetal Stomach	stomach
39	chr4:48705600-48712800	Weak transcription	Psoas Muscle	Psoas
40	chr4:48705600-48728800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr4:48705800-48711400	Weak transcription	HSMM	muscle
42	chr4:48705800-48712200	Weak transcription	Brain Anterior Caudate	brain
43	chr4:48705800-48712200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr4:48705800-48714000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr4:48706600-48710800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr4:48706600-48712000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr4:48706600-48712800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:48706600-48718600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr4:48707000-48712000	Weak transcription	Colonic Mucosa	Colon
50	chr4:48707200-48712400	Weak transcription	H1 Cell Line	embryonic stem cell

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