Variant report

Variant	rs536595673
Chromosome Location	chr6:56916403-56916404
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:56818841..56821468-chr6:56915321..56916838,2	K562	blood:
2	chr6:56915285..56917607-chr6:56951882..56953453,2	K562	blood:
3	chr6:56916177..56920569-chr6:56928731..56932543,4	K562	blood:
4	chr6:56913918..56916785-chr6:56951953..56954824,2	K562	blood:
5	chr6:56911424..56913498-chr6:56915696..56917760,2	K562	blood:
6	chr6:56916004..56918245-chr6:56961868..56964513,2	K562	blood:
7	chr6:56818139..56821973-chr6:56914159..56916532,4	K562	blood:
8	chr6:56825122..56826633-chr6:56914497..56917347,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000168116	Chromatin interaction
ENSG00000151917	Chromatin interaction
ENSG00000151914	Chromatin interaction
ENSG00000112200	Chromatin interaction

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	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats 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	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1021651	chr6:56569444-56966319	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv538228	chr6:56569444-56966319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv3430228	chr6:56830972-57079281	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv1026524	chr6:56902544-56951703	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv970717	chr6:56903957-56955783	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv885913	chr6:56910884-56954439	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv970684	chr6:56912349-56953340	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
11	esv3374787	chr6:56912959-56955113	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	esv2763988	chr6:56913072-56952630	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
13	nsv603189	chr6:56913453-56950609	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
14	nsv538230	chr6:56913943-56951703	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
15	esv3405000	chr6:56915624-56916595	Strong transcription Weak transcription	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
16	esv3474021	chr6:56915676-56916546	Strong transcription Weak transcription	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
17	esv3474022	chr6:56915676-56916546	Strong transcription Weak transcription	Chromatin interactive region	6 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	chr6:56911600-56920800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:56911600-56920800	Weak transcription	Aorta	Aorta
3	chr6:56911600-56925000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:56911600-56935200	Weak transcription	Gastric	stomach
5	chr6:56911600-56939800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:56911800-56922200	Weak transcription	Right Ventricle	heart
7	chr6:56911800-56924200	Weak transcription	Colonic Mucosa	Colon
8	chr6:56911800-56930800	Weak transcription	Psoas Muscle	Psoas
9	chr6:56911800-56934200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr6:56911800-56936200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:56911800-56943000	Weak transcription	Esophagus	oesophagus
12	chr6:56913400-56921400	Strong transcription	HSMM	muscle
13	chr6:56913400-56924400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr6:56913400-56940600	Weak transcription	Brain Substantia Nigra	brain
15	chr6:56913600-56916800	Strong transcription	A549	lung
16	chr6:56913600-56917600	Weak transcription	Brain Angular Gyrus	brain
17	chr6:56913600-56919200	Weak transcription	Fetal Heart	heart
18	chr6:56913600-56920800	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr6:56913600-56921600	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr6:56913600-56921800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr6:56913600-56924600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr6:56913600-56925600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:56913600-56926600	Weak transcription	Small Intestine	intestine
24	chr6:56913600-56931600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:56913600-56934000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr6:56913600-56941600	Weak transcription	Brain Anterior Caudate	brain
27	chr6:56913800-56918200	Weak transcription	NHLF	lung
28	chr6:56913800-56920600	Weak transcription	NHEK	skin
29	chr6:56913800-56928000	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr6:56913800-56930600	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr6:56914000-56919000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:56914000-56934600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr6:56914200-56920800	Strong transcription	HMEC	breast
34	chr6:56914200-56927000	Strong transcription	Osteobl	bone
35	chr6:56914200-56927400	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr6:56914200-56929600	Weak transcription	Fetal Brain Male	brain
37	chr6:56914200-56931000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr6:56914200-56934200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:56914400-56917800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr6:56914400-56919000	Strong transcription	Primary B cells from cord blood	blood
41	chr6:56914400-56921400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:56914400-56922200	Strong transcription	Liver	Liver
43	chr6:56914400-56923200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr6:56914400-56928600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr6:56914400-56929000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr6:56914400-56931800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr6:56914400-56935000	Weak transcription	Fetal Kidney	kidney
48	chr6:56914600-56917200	Strong transcription	HSMMtube	muscle
49	chr6:56914600-56917600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr6:56914600-56917800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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