Variant report

Variant	rs542988853
Chromosome Location	chr6:86287798-86287799
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:86287466..86289317-chr6:86353179..86355732,2	MCF-7	breast:
2	chr6:86285911..86288526-chr6:86297034..86299855,3	K562	blood:
3	chr6:86286722..86289673-chr6:86387180..86389276,2	MCF-7	breast:
4	chr6:86285488..86287926-chr6:86288888..86290773,2	MCF-7	breast:
5	chr6:86286697..86290056-chr6:86301886..86305465,5	MCF-7	breast:
6	chr6:86287653..86290758-chr6:86386971..86389926,3	K562	blood:
7	chr6:86279748..86283159-chr6:86286791..86290808,4	K562	blood:

Variant related genes	Relation type
ENSG00000135316	Chromatin interaction
ENSG00000135317	Chromatin interaction
ENSG00000203875	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022445	chr6:85972678-86392968	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv538349	chr6:85972678-86392968	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	esv3326486	chr6:86020165-86292456	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised 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	15 gene(s)	inside rSNPs	diseases
4	nsv886333	chr6:86199243-86289415	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv886334	chr6:86214507-86394403	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
6	esv1792638	chr6:86224053-86336300	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	esv3351743	chr6:86286282-86308720	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:86208800-86289200	Weak transcription	Pancreas	Pancrea
2	chr6:86222600-86289400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:86224200-86302600	Weak transcription	Colonic Mucosa	Colon
4	chr6:86233800-86289200	Weak transcription	Spleen	Spleen
5	chr6:86243400-86301400	Weak transcription	Thymus	Thymus
6	chr6:86244200-86289200	Weak transcription	Gastric	stomach
7	chr6:86252800-86289600	Weak transcription	Esophagus	oesophagus
8	chr6:86254800-86287800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr6:86263000-86289400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr6:86263000-86289600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr6:86265600-86288200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr6:86265600-86289800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr6:86266400-86290000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:86272000-86290200	Weak transcription	Fetal Muscle Leg	muscle
15	chr6:86273400-86288000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr6:86277600-86289200	Weak transcription	Lung	lung
17	chr6:86278200-86302600	Weak transcription	Ovary	ovary
18	chr6:86278400-86291400	Weak transcription	Adipose Nuclei	Adipose
19	chr6:86279200-86289200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:86280000-86301400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr6:86280200-86290200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr6:86281200-86288800	Weak transcription	Fetal Stomach	stomach
23	chr6:86281200-86289600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr6:86281400-86289200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr6:86281400-86301600	Weak transcription	Fetal Thymus	thymus
26	chr6:86281600-86288000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:86281600-86288000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr6:86281600-86288200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr6:86281600-86290000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:86281600-86290000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:86281600-86290200	Weak transcription	GM12878-XiMat	blood
32	chr6:86281600-86291800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr6:86281800-86287800	Weak transcription	Primary B cells from peripheral blood	blood
34	chr6:86281800-86290400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr6:86282000-86289200	Weak transcription	Fetal Intestine Large	intestine
36	chr6:86282200-86290400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr6:86282200-86291600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:86282400-86290200	Weak transcription	Placenta	Placenta
39	chr6:86282600-86288200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr6:86282800-86288000	Weak transcription	Primary T cells from cord blood	blood
41	chr6:86283000-86288800	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr6:86283000-86290200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr6:86283200-86288000	Weak transcription	Fetal Intestine Small	intestine
44	chr6:86283400-86289000	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr6:86283600-86290200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr6:86284400-86287800	Strong transcription	Primary B cells from cord blood	blood
47	chr6:86284400-86292000	Enhancers	Stomach Mucosa	stomach
48	chr6:86285000-86290400	Weak transcription	Small Intestine	intestine
49	chr6:86285200-86289200	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr6:86285200-86290200	Weak transcription	Aorta	Aorta

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