Variant report

Variant	rs199962487
Chromosome Location	chr6:33754500-33754501
allele	C/T
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	CHD1	chr6:33753489-33757327	IMR90	lung:	n/a	n/a
2	POLR2A	chr6:33754307-33756475	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr6:33753458-33754807	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr6:33754123-33757999	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr6:33754388-33756268	K562	blood:	n/a	n/a
6	POLR2A	chr6:33753986-33754634	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:33677771..33685795-chr6:33753004..33758704,10	MCF-7	breast:
2	chr6:33743776..33747465-chr6:33751783..33755243,5	MCF-7	breast:

Variant related genes	Relation type
LEMD2	TF binding region
ENSG00000161904	Chromatin interaction
ENSG00000137288	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885772	chr6:33638180-33767727	Bivalent Enhancer Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv462897	chr6:33717770-33778964	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv602839	chr6:33717770-33778964	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv462898	chr6:33723383-33768897	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv602840	chr6:33723383-33768897	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	esv3436027	chr6:33754374-33758772	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33746600-33755000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr6:33750400-33755000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:33751600-33755200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr6:33751800-33754600	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr6:33752000-33754600	Genic enhancers	Adipose Nuclei	Adipose
6	chr6:33752000-33754600	Weak transcription	Fetal Brain Male	brain
7	chr6:33752000-33755000	Genic enhancers	Brain Cingulate Gyrus	brain
8	chr6:33752400-33754600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr6:33752400-33754800	Genic enhancers	Stomach Smooth Muscle	stomach
10	chr6:33752600-33754600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
11	chr6:33752600-33754600	Genic enhancers	Colon Smooth Muscle	Colon
12	chr6:33752600-33755000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:33752600-33755200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:33752600-33755600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr6:33752800-33754800	Genic enhancers	Osteobl	bone
16	chr6:33752800-33755200	Genic enhancers	Brain Hippocampus Middle	brain
17	chr6:33752800-33755400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:33752800-33755400	Genic enhancers	Fetal Muscle Leg	muscle
19	chr6:33752800-33755400	Genic enhancers	Placenta	Placenta
20	chr6:33753000-33754600	Genic enhancers	Primary T cells from cord blood	blood
21	chr6:33753000-33754600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr6:33753000-33754600	Genic enhancers	Liver	Liver
23	chr6:33753000-33754800	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr6:33753000-33754800	Genic enhancers	Brain Substantia Nigra	brain
25	chr6:33753000-33754800	Genic enhancers	Fetal Lung	lung
26	chr6:33753000-33755200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:33753000-33755200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:33753000-33755200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:33753000-33755200	Genic enhancers	HSMM	muscle
30	chr6:33753000-33755400	Genic enhancers	Primary B cells from peripheral blood	blood
31	chr6:33753000-33756000	Flanking Active TSS	HUVEC	blood vessel
32	chr6:33753200-33754600	Weak transcription	Aorta	Aorta
33	chr6:33753200-33754600	Weak transcription	Fetal Kidney	kidney
34	chr6:33753200-33754600	Enhancers	Right Atrium	heart
35	chr6:33753200-33754800	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr6:33753200-33754800	Enhancers	Hela-S3	cervix
37	chr6:33753200-33755200	Genic enhancers	Fetal Stomach	stomach
38	chr6:33753200-33755200	Genic enhancers	Thymus	Thymus
39	chr6:33753200-33755400	Enhancers	Fetal Heart	heart
40	chr6:33753200-33755400	Enhancers	Right Ventricle	heart
41	chr6:33753200-33755600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr6:33753400-33754600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:33753400-33754600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr6:33753400-33754600	Enhancers	NHDF-Ad	bronchial
45	chr6:33753400-33755000	Weak transcription	Gastric	stomach
46	chr6:33753400-33755000	Genic enhancers	A549	lung
47	chr6:33753400-33755200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr6:33753400-33755200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr6:33753400-33755200	Weak transcription	Esophagus	oesophagus
50	chr6:33753400-33755400	Strong transcription	Fetal Muscle Trunk	muscle

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