Variant report

Variant	rs16888068
Chromosome Location	chr6:56494870-56494871
allele	C/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	POLR2A	chr6:56493059-56495607	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:56490323..56493400-chr6:56494579..56497663,3	K562	blood:

Variant related genes	Relation type
DST	TF binding region
ENSG00000151914	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1024196	1.00[MEX][hapmap]
rs7759479	1.00[MEX][hapmap]

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	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56408200-56496000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:56417000-56516400	Weak transcription	Pancreas	Pancrea
3	chr6:56432800-56513600	Weak transcription	Small Intestine	intestine
4	chr6:56441000-56524800	Weak transcription	Colonic Mucosa	Colon
5	chr6:56451800-56514200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr6:56452200-56514600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:56453000-56502200	Strong transcription	Muscle Satellite Cultured Cells	--
8	chr6:56453000-56506800	Strong transcription	HSMM	muscle
9	chr6:56457200-56501200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:56459000-56496200	Weak transcription	Fetal Kidney	kidney
11	chr6:56459000-56502400	Strong transcription	Osteobl	bone
12	chr6:56459000-56521000	Weak transcription	Spleen	Spleen
13	chr6:56460600-56496000	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr6:56460600-56513600	Weak transcription	Stomach Mucosa	stomach
15	chr6:56470600-56502200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:56470800-56502600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:56474200-56501200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:56478000-56502600	Strong transcription	NHDF-Ad	bronchial
19	chr6:56478200-56501600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:56478400-56514600	Weak transcription	Lung	lung
21	chr6:56478600-56501800	Strong transcription	Adipose Nuclei	Adipose
22	chr6:56479400-56502600	Strong transcription	HMEC	breast
23	chr6:56479600-56495200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:56479800-56497400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:56480000-56501800	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr6:56480600-56495400	Strong transcription	NHEK	skin
27	chr6:56480600-56514600	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr6:56480800-56536400	Weak transcription	Gastric	stomach
29	chr6:56481000-56501600	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr6:56482000-56518200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr6:56482200-56501600	Strong transcription	Brain Anterior Caudate	brain
32	chr6:56482200-56505000	Weak transcription	Esophagus	oesophagus
33	chr6:56483400-56496000	Weak transcription	Right Ventricle	heart
34	chr6:56483400-56512600	Weak transcription	Psoas Muscle	Psoas
35	chr6:56485000-56514400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr6:56485600-56498200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr6:56485600-56507400	Weak transcription	Aorta	Aorta
38	chr6:56485800-56512400	Weak transcription	Fetal Stomach	stomach
39	chr6:56486000-56500200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr6:56487200-56501800	Strong transcription	Fetal Lung	lung
41	chr6:56487200-56502000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr6:56487600-56501000	Strong transcription	GM12878-XiMat	blood
43	chr6:56487600-56501800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr6:56488000-56500800	Strong transcription	NH-A	brain
45	chr6:56488200-56495400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr6:56488200-56501800	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr6:56488400-56497800	Strong transcription	Brain Hippocampus Middle	brain
48	chr6:56488800-56501600	Strong transcription	HSMMtube	muscle
49	chr6:56488800-56507200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr6:56489000-56501600	Strong transcription	Skeletal Muscle Male	skeletal muscle

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