Variant report

Variant	rs71564878
Chromosome Location	chr6:56953924-56953925
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	GATA1	chr6:56953499-56955181	PBDE	blood:	n/a	chr6:56954751-56954761 chr6:56953627-56953637
2	ZNF384	chr6:56953457-56953964	K562	blood:	n/a	n/a
3	MEF2A	chr6:56953842-56954912	K562	blood:	n/a	chr6:56954219-56954240 chr6:56954221-56954236 chr6:56954223-56954234 chr6:56954224-56954233 chr6:56954221-56954237 chr6:56954217-56954238 chr6:56954222-56954236 chr6:56954220-56954236 chr6:56954217-56954238

No.	Distal block	Cell Line	Cell type
1	chr6:56948909..56950719-chr6:56952712..56954669,2	K562	blood:
2	chr6:56952370..56954266-chr6:56971549..56974496,2	K562	blood:
3	chr6:56951936..56954342-chr6:57037762..57039413,2	K562	blood:

Variant related genes	Relation type
ZNF451	TF binding region
ENSG00000112208	Chromatin interaction
ENSG00000226803	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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
3	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
4	nsv1021651	chr6:56569444-56966319	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv538228	chr6:56569444-56966319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv3430228	chr6:56830972-57079281	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv970717	chr6:56903957-56955783	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv885913	chr6:56910884-56954439	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	esv3374787	chr6:56912959-56955113	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv526143	chr6:56917538-56954439	Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv350038	chr6:56953752-56960124	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56914600-56954200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr6:56916800-56954400	Weak transcription	Thymus	Thymus
3	chr6:56918400-56954200	Weak transcription	Colon Smooth Muscle	Colon
4	chr6:56925400-56954400	Weak transcription	Primary B cells from cord blood	blood
5	chr6:56925600-56954200	Weak transcription	Hela-S3	cervix
6	chr6:56926600-56954200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr6:56927000-56954800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:56927200-56954000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr6:56929200-56954200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr6:56929400-56954200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:56930000-56954200	Weak transcription	Fetal Intestine Small	intestine
12	chr6:56930200-56954000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr6:56930400-56954200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:56931600-56954200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr6:56932600-56954200	Weak transcription	HMEC	breast
16	chr6:56933200-56954200	Weak transcription	HSMM	muscle
17	chr6:56935200-56954200	Weak transcription	Placenta	Placenta
18	chr6:56935200-56954800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:56939000-56954400	Weak transcription	Ovary	ovary
20	chr6:56939600-56954200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:56939600-56954200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:56939600-56954400	Weak transcription	Aorta	Aorta
23	chr6:56943200-56954200	Weak transcription	Right Atrium	heart
24	chr6:56944800-56954200	Weak transcription	Fetal Stomach	stomach
25	chr6:56945000-56954200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr6:56945800-56954000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr6:56947400-56954200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:56947800-56954200	Weak transcription	Adipose Nuclei	Adipose
29	chr6:56948000-56954200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr6:56948000-56954200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr6:56948000-56954400	Weak transcription	Psoas Muscle	Psoas
32	chr6:56950400-56954200	Weak transcription	NHDF-Ad	bronchial
33	chr6:56950800-56954200	Weak transcription	Brain Germinal Matrix	brain
34	chr6:56951200-56954000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr6:56952000-56954000	Weak transcription	HUVEC	blood vessel
36	chr6:56952400-56954400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr6:56952400-56954400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr6:56952600-56954200	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr6:56952600-56954400	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr6:56952800-56954200	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr6:56952800-56954400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr6:56953000-56954200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr6:56953200-56954200	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr6:56953200-56954800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr6:56953600-56954000	Weak transcription	Brain Cingulate Gyrus	brain
46	chr6:56953600-56954200	Enhancers	K562	blood
47	chr6:56953800-56954000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr6:56953800-56954200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr6:56953800-56954200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr6:56953800-56954200	Enhancers	HUES64 Cell Line	embryonic stem cell

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