Variant report

Variant	rs149511437
Chromosome Location	chr6:26457444-26457445
allele	-/GT
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	RFX5	chr6:26457415-26458654	H1-hESC	embryonic stem cell:	n/a	chr6:26458073-26458081
2	RFX5	chr6:26457201-26460386	IMR90	lung:	n/a	chr6:26458073-26458081
3	POLR2A	chr6:26457424-26457559	HepG2	liver:	n/a	n/a
4	RFX5	chr6:26457336-26458607	K562	blood:	n/a	chr6:26458073-26458081
5	FOXA2	chr6:26457251-26457553	HepG2	liver:	n/a	n/a
6	CBX3	chr6:26457315-26458711	K562	blood:	n/a	n/a
7	REST	chr6:26457416-26458756	H1-neurons	neurons:	n/a	chr6:26458454-26458467
8	RFX5	chr6:26455737-26459788	SK-N-SH	brain:	n/a	chr6:26458073-26458081
9	MYBL2	chr6:26457314-26458662	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:26204619..26206615-chr6:26455801..26457917,2	K562	blood:
2	chr6:26449553..26453974-chr6:26454911..26459271,5	K562	blood:
3	chr6:26158231..26160273-chr6:26456660..26458707,2	K562	blood:
4	chr6:26420361..26423136-chr6:26455979..26458036,3	MCF-7	breast:

Variant related genes	Relation type
BTN2A1	TF binding region
ENSG00000158373	Chromatin interaction
ENSG00000198518	Chromatin interaction
ENSG00000124549	Chromatin interaction
ENSG00000111801	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029920	chr6:25638507-26585842	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
2	nsv538162	chr6:25638507-26585842	Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
3	nsv1023453	chr6:25853830-26528250	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1201 gene(s)	inside rSNPs	diseases
4	nsv482729	chr6:26291011-26470898	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv482836	chr6:26352883-26520964	Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv482407	chr6:26369320-26550148	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Enhancers 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	62 gene(s)	inside rSNPs	diseases
7	esv2763996	chr6:26423901-26465384	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1017824	chr6:26425410-26465384	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv1030289	chr6:26428314-26464017	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv1033003	chr6:26428314-26465384	Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	nsv1031229	chr6:26428314-26467182	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	nsv1031238	chr6:26428314-26471596	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
13	nsv1024483	chr6:26429262-26465384	Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
14	nsv1034561	chr6:26429262-26467182	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
15	nsv528172	chr6:26430981-26463660	Genic enhancers Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
16	nsv1029357	chr6:26432815-26464789	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
17	nsv1023581	chr6:26432815-26465384	Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
18	nsv1024222	chr6:26432815-26467182	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
19	nsv1022309	chr6:26434914-26464789	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
20	nsv601185	chr6:26455811-26465384	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
21	nsv965689	chr6:26457033-26469487	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26441200-26457600	Weak transcription	Pancreas	Pancrea
2	chr6:26446400-26458200	Weak transcription	Gastric	stomach
3	chr6:26448000-26457600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr6:26449000-26457600	Weak transcription	Right Ventricle	heart
5	chr6:26450800-26457600	Weak transcription	Placenta	Placenta
6	chr6:26450800-26458200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:26451000-26457600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr6:26451400-26457600	Weak transcription	Ovary	ovary
9	chr6:26451800-26457600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr6:26452000-26457600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr6:26452000-26457600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr6:26452000-26457600	Weak transcription	Colonic Mucosa	Colon
13	chr6:26452000-26457600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr6:26453400-26457600	Weak transcription	Fetal Heart	heart
15	chr6:26454400-26457600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:26454600-26457600	Enhancers	NHDF-Ad	bronchial
17	chr6:26454800-26457600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr6:26455200-26457600	Enhancers	Spleen	Spleen
19	chr6:26456400-26458200	Weak transcription	Lung	lung
20	chr6:26456600-26457800	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr6:26456600-26457800	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr6:26456800-26457600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr6:26456800-26457600	Enhancers	Primary T cells from cord blood	blood
24	chr6:26456800-26457600	Genic enhancers	Primary T cells fromperipheralblood	blood
25	chr6:26456800-26457600	Enhancers	Fetal Muscle Leg	muscle
26	chr6:26456800-26457600	Enhancers	K562	blood
27	chr6:26456800-26457800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr6:26456800-26457800	Enhancers	Esophagus	oesophagus
29	chr6:26456800-26457800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr6:26456800-26457800	Enhancers	Left Ventricle	heart
31	chr6:26457000-26457600	Weak transcription	Aorta	Aorta
32	chr6:26457000-26457600	Enhancers	Brain Substantia Nigra	brain
33	chr6:26457200-26457600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr6:26457200-26457600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr6:26457200-26457600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:26457200-26457600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr6:26457200-26457600	Enhancers	Brain Cingulate Gyrus	brain
38	chr6:26457200-26457600	Enhancers	Brain Hippocampus Middle	brain
39	chr6:26457200-26457600	Enhancers	Colon Smooth Muscle	Colon
40	chr6:26457200-26457600	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr6:26457200-26457800	Enhancers	Fetal Stomach	stomach
42	chr6:26457200-26457800	Enhancers	Fetal Thymus	thymus
43	chr6:26457200-26458000	Flanking Active TSS	Dnd41	blood
44	chr6:26457400-26457600	Enhancers	H9 Cell Line	embryonic stem cell
45	chr6:26457400-26457600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:26457400-26457600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr6:26457400-26457600	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr6:26457400-26457600	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr6:26457400-26457600	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr6:26457400-26457600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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