Variant report

Variant	rs543311386
Chromosome Location	chr6:36808310-36808311
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	CTBP2	chr6:36807924-36809045	H1-hESC	embryonic stem cell:	n/a	n/a
2	EBF1	chr6:36808267-36808504	GM12878	blood:	n/a	n/a
3	ZBTB7A	chr6:36807009-36808340	ECC-1	luminal epithelium:	n/a	chr6:36807712-36807721
4	MAX	chr6:36808161-36808938	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr6:36808169-36808898	H1-hESC	embryonic stem cell:	n/a	n/a
6	E2F6	chr6:36808104-36808943	H1-hESC	embryonic stem cell:	n/a	chr6:36808802-36808811
7	ZBTB7A	chr6:36807000-36808387	K562	blood:	n/a	chr6:36807712-36807721
8	E2F6	chr6:36808060-36809021	H1-hESC	embryonic stem cell:	n/a	chr6:36808802-36808811 chr6:36808071-36808088 chr6:36808073-36808087 chr6:36808078-36808085
9	E2F6	chr6:36808228-36808420	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:36803997..36809047-chr6:36852852..36856509,4	K562	blood:
2	chr6:36807524..36809361-chr6:36841077..36843091,2	K562	blood:
3	chr6:36807086..36809328-chr6:36841078..36843476,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CPNE5-1	chr6:36807550-36808916	XLOC_005701

Variant related genes	Relation type
CPNE5	TF binding region
ENSG00000198663	Chromatin interaction
ENSG00000137168	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023171	chr6:36686935-36880899	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv538202	chr6:36686935-36880899	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1033261	chr6:36687424-36837315	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv5262	chr6:36799329-36826210	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	esv3421891	chr6:36806599-36809147	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36806200-36808400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr6:36806600-36808400	Bivalent/Poised TSS	Fetal Kidney	kidney
3	chr6:36806600-36809000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr6:36806600-36809000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr6:36806600-36809000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr6:36806600-36809000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr6:36806600-36809000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr6:36806600-36809000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:36806800-36808400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:36806800-36808400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
11	chr6:36806800-36808400	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr6:36806800-36808600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr6:36806800-36808800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:36806800-36809000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:36807000-36808400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr6:36807000-36808600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
17	chr6:36807000-36808600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:36807000-36808600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
19	chr6:36807000-36808800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr6:36807000-36808800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
21	chr6:36807200-36808600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
22	chr6:36807200-36808800	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr6:36807200-36808800	Enhancers	Spleen	Spleen
24	chr6:36807200-36809200	Enhancers	Fetal Brain Male	brain
25	chr6:36807400-36808400	Bivalent Enhancer	Placenta	Placenta
26	chr6:36807400-36808800	Enhancers	Gastric	stomach
27	chr6:36807600-36808600	Flanking Bivalent TSS/Enh	Thymus	Thymus
28	chr6:36807800-36808400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr6:36807800-36808400	Flanking Active TSS	Pancreas	Pancrea
30	chr6:36807800-36808400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
31	chr6:36807800-36808600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
32	chr6:36807800-36808600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
33	chr6:36807800-36808600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
34	chr6:36807800-36808600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr6:36807800-36808600	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
36	chr6:36807800-36808600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
37	chr6:36807800-36808600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
38	chr6:36807800-36808600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
39	chr6:36807800-36808600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
40	chr6:36807800-36808800	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr6:36807800-36808800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr6:36807800-36808800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr6:36807800-36808800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
44	chr6:36807800-36808800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
45	chr6:36807800-36808800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
46	chr6:36807800-36808800	Flanking Active TSS	Psoas Muscle	Psoas
47	chr6:36807800-36808800	Flanking Active TSS	Right Ventricle	heart
48	chr6:36807800-36808800	Flanking Active TSS	HSMM	muscle
49	chr6:36807800-36809000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr6:36807800-36809000	Flanking Active TSS	Adipose Nuclei	Adipose

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