Variant report

Variant	rs570239561
Chromosome Location	chr6:5416231-5416232
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:5415440..5417820-chr6:5418569..5420285,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031837	chr6:4996667-5418726	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	nsv1030254	chr6:5132261-5431585	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1019428	chr6:5216835-5627839	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv538118	chr6:5216835-5627839	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv830578	chr6:5264086-5455570	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv883417	chr6:5307432-5431340	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv883418	chr6:5307432-5501389	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1015643	chr6:5311590-5452427	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1034607	chr6:5311590-5573514	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv538120	chr6:5311590-5573514	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv916361	chr6:5315853-5695486	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1030744	chr6:5328012-5458222	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1023027	chr6:5377308-5556749	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv538121	chr6:5377308-5556749	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv1022505	chr6:5388025-5449240	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv5180	chr6:5389197-5434354	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv3433388	chr6:5415789-5416237	Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5369400-5419800	Weak transcription	Aorta	Aorta
2	chr6:5369600-5417400	Weak transcription	Fetal Intestine Small	intestine
3	chr6:5374400-5431400	Weak transcription	Primary B cells from cord blood	blood
4	chr6:5395400-5431200	Weak transcription	Left Ventricle	heart
5	chr6:5399200-5440000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr6:5403200-5439800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr6:5403400-5445200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr6:5403600-5418600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr6:5403600-5437600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr6:5404200-5419800	Weak transcription	Dnd41	blood
11	chr6:5404800-5428200	Weak transcription	Lung	lung
12	chr6:5405200-5431000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr6:5405400-5439800	Weak transcription	Pancreas	Pancrea
14	chr6:5406600-5431400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr6:5406800-5417600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr6:5407000-5431000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr6:5407400-5439600	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr6:5408200-5417800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:5408600-5431200	Weak transcription	Gastric	stomach
20	chr6:5410200-5431200	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr6:5410400-5427600	Weak transcription	Thymus	Thymus
22	chr6:5410800-5421200	Weak transcription	Primary T cells from cord blood	blood
23	chr6:5411600-5431200	Weak transcription	HepG2	liver
24	chr6:5411600-5432800	Weak transcription	Fetal Muscle Leg	muscle
25	chr6:5412400-5419800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr6:5412600-5421000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr6:5412600-5422200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr6:5412800-5425800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:5412800-5431200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr6:5412800-5437000	Weak transcription	Ovary	ovary
31	chr6:5412800-5439400	Weak transcription	Spleen	Spleen
32	chr6:5413400-5431400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:5413400-5433200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr6:5413400-5435200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr6:5413400-5442800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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